Eosinophilia Panel pin

FISH

Panel Components:
PDGFRA/CHIC2/FIP1L1, PDGFRB, FGFR1

Methodology: FISH

Clinical Significance:
Idiopathic hypereosinophilic syndrome (HES), or primary eosinophilia, is a chronic and typically slowly progressive disease that eventually results in organ damage. Several molecular mechanisms have been identified, including FIP1L1-PDGFRα and rearrangements of PDGFRβ and FGFR1. The presence of any of these abnormalities is associated with positive response to imatinib mesylate (Gleevec) therapy. While molecularly defined eosinophilias are relatively rare, up to one-quarter of HES patients have been shown to harbor one of these mutations. In these patients, imatinib therapy improves 5-year survival rates to from ~75% to 90-95% and reduces rates of progression from 50% down to less than 1%.

Organ: Blood/Bone Marrow

Disease State:

CPT Code(s): 88374 x3

Turnaround Time: Within 3-4 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Peripheral blood, Preferred: 3 ml in sodium heparin (green top) / Acceptable: 3 ml in EDTA (purple top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in sodium heparin (green top) / Acceptable: 1-2 ml in EDTA (purple top) - OR -
• Fresh tissue in RPMI

Tech Only

FGFR1 pin

FISH

FGFR1

Alternate Test Names:
FGFR1 rearrangement, 8P11

Methodology: FISH

Clinical Significance:
Translocations that disrupt the fibroblast growth factor receptor-1 (FGFR1) gene are associated with a disease known as 8p11 myeloproliferative syndrome (EMS)/stem cell leukemia-lymphoma syndrome. This syndrome is characterized by myeloid hyperplasia that rapidly transforms to acute myelogenous leukemia and/or lymphoma within a year of the original diagnosis. In the “stem cell” myeloproliferative disorders, a mutation in the pluripotent hematopoietic progenitor results in a spectrum of diseases including T- or B-cell lymphoblastic lymphoma, bone marrow myeloid hyperplasia, and eosinophilia. These poor prognostic disorders are related to recurrent breakpoints on chromosome 8p11 that involve translocation of the FGFR1 gene. Tyrosine kinase fusions involving FGFR1 exhibit an aggressive and more variable sensitivity to current tyrosine kinase inhibitors, like imatinib, so in most cases long-term disease-free survival may only be obtainable with allogeneic hematopoietic stem cell transplantation.

Organ: Blood/Bone Marrow

Disease State:

CPT Code(s): 88374

Turnaround Time: Within 3-4 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Peripheral blood, Preferred: 3 ml in sodium heparin (green top) / Acceptable: 3 ml in EDTA (purple top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in sodium heparin (green top) / Acceptable: 1-2 ml in EDTA (purple top) - OR -
• Fresh tissue in RPMI

PDGFRB pin

FISH

PDGFRB

Alternate Test Names:
PDGFRB rearrangement

Methodology: FISH

Clinical Significance:
Rearrangement of PDGFRB is one of several molecularly defined mechanisms identified in eosinophilia-associated myeloid and lymphoid neoplasms. These neoplasms often present with features similar to chronic myelomonocytic leukemia (CMML), including leukocytosis with anemia and thrombocytopenia, and hypercellular bone marrow with increased reticulin fibrosis. The most common translocation partner is ETV6 [t(5;12)(q33;p13), although more than 20 others have been described. The translocation encodes a constitutively activated tyrosine kinase that responds to imatinib therapy.

Organ: Blood/Bone Marrow

Disease State:

CPT Code(s): 88374

Turnaround Time: Within 3-4 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Peripheral blood, Preferred: 3 ml in sodium heparin (green top) / Acceptable: 3 ml in EDTA (purple top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in sodium heparin (green top) / Acceptable: 1-2 ml in EDTA (purple top) - OR -
• Fresh tissue in RPMI

PDGFRA/CHIC2/FIP1L1 pin

FISH

PDGFRA/CHIC2/FIP1L1

Alternate Test Names:
PDGFRA, PDGFRA-FIP1L1 fusion, CHIC2 deletion, 4q12

Methodology: FISH

Clinical Significance:
The FIP1L1-PDRGFRα fusion is a genetic abnormality found in idiopathic hypereosinophilic syndrome (HES), or primary eosinophilia. HES is a chronic and typically slowly progressive disease that eventually results in organ damage. Several molecular mechanisms have been identified, including FIP1L1-PDGFRα and rearrangements of PDGFRβ and FGFR1. Presence of the FIP1L1-PDGFRα fusion is associated with positive response to imatinib mesylate (Gleevec) therapy. While molecularly defined eosinophilias are relatively rare, approximately one-quarter of HES patients have been shown to harbor this mutation. In these patients, imatinib therapy improves 5-year survival rates to from ~75% to 90-95% and reduces rates of progression from 50% down to less than 1%.

Organ: Blood/Bone Marrow

Disease State:

CPT Code(s): 88374

Turnaround Time: Within 3-4 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Peripheral blood, Preferred: 3 ml in sodium heparin (green top) / Acceptable: 3 ml in EDTA (purple top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in sodium heparin (green top) / Acceptable: 1-2 ml in EDTA (purple top) - OR -
• Fresh tissue in RPMI

MPL W515L/K PCR pin

PCR

Alternate Test Names:
MPL codon 515

Methodology: PCR

Clinical Significance:
This real time PCR assay detects somatic mutations in codon 515 of the “myeloproliferative leukemia virus oncogene” (“MPL”). These mutations occur in chronic myeloproliferative neoplasms, including primary myelofibrosis (PMF) and essential thrombocythemia (ET). MPL codon 515 (W515) mutations are found in ~3-4% of patients with ET and ~7-8% of patients with PMF; the identification of an MPL mutation fulfills one of the WHO major diagnostic criteria for these diseases. MPL mutations are usually found in chronic myeloproliferative neoplasm cases that are negative for the JAK2 V617F mutation and Calreticulin exon 9 mutations.

Organ: Blood/Bone Marrow, Lymph Node / Spleen

Disease State: Myeloproliferative Neoplasms (non-CML)

CPT Code(s): 81402; 88381 may apply (reference only; CPTs may vary)

Turnaround Time: Within 5-8 business days of receipt

Schedule: Monday (run and analyzed same day)

Specimen Requirements:
• Peripheral blood, Preferred: 5 ml in EDTA (purple top) / Acceptable: 5 ml in sodium heparin (green top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in EDTA (purple top) / Acceptable: 1-2 ml in sodium heparin (green top) - OR -
• Formalin-fixed, paraffin-embedded tissue (FFPE) block or 10 unstained FFPE slides.

BCMA pin

IHC

Alternate Test Names:
CD269

Methodology: IHC

Clinical Significance:
BCMA, or B cell maturation antigen, is a plasma cell-associated surface antigen expressed by the great majority of benign and neoplastic plasma cells and by a smaller proportion of benign and neoplastic B cells.

Organ:

Disease State:

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

ALK (for lung carcinoma) pin

IHC

Methodology: IHC

Clinical Significance:
ALK is a proto-oncogene highly expressed in a variety of tumor cells, and in particular in ~2-5% of non-small cell lung carcinomas owing to the presence of a chromosomal 2 EML4-ALK rearrangement. Cytoplasmic localization of ALK can be used to distinguish cancers containing the ALK translocation, with results between IHC and FISH highly concordant. Published data suggest that ALK rearrangement in NSCLC is a strong predictive marker for response to crizotinib. In our validation studies the cutoff for IHC positivity is ≥ 10%. (References: Kwak EL et al., N Engl J Med 363:1693-703, 2010; von Laffert M et al., J Thorac Oncol 9:1685-92, 2014).)

Organ:

Disease State:

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Glutamine Synthetase pin

IHC

Methodology: IHC

Clinical Significance:

Organ:

Disease State:

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

Pancreatic hormone panel pin

IHC

Panel Components:
Gastrin, glucagon, insulin, pancreatic polypeptide (PP), serotonin, somatostatin, and VIP

Methodology: IHC

Clinical Significance:

Organ:

Disease State:

CPT Code(s): 88342 or 88341/antibody (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Pituitary hormone panel pin

IHC

Panel Components:
ACTH, FSH, GH, prolactin, LH, TSH, ER, and SF-1

Methodology: IHC

Clinical Significance:

Organ:

Disease State:

CPT Code(s): 88342 or 88341/antibody (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

CEBPA Mutation Analysis pin

Send out test

Methodology: Send out test

Clinical Significance:

Organ:

Disease State:

CPT Code(s): Variable, depending on where specimen is sent; contact Client Services for additional information

Turnaround Time: Variable, depending on where specimen is sent; contact Client Services for additional information

Schedule:

Specimen Requirements:
• Peripheral blood, Preferred: 5 ml in EDTA (purple top) / Acceptable: 5 ml in sodium heparin (green top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in EDTA (purple top) / Acceptable: 1-2 ml in sodium heparin (green top) - OR -
• FFPE solid tumor tissue, Preferred: Paraffin block / Acceptable: 1 H&E plus 5-10 unstained slides cut at 5 or more microns

NPM1 Mutation Analysis pin

Send out test

Methodology: Send out test

Clinical Significance:

Organ:

Disease State:

CPT Code(s): Variable, depending on where specimen is sent; contact Client Services for additional information

Turnaround Time: Variable, depending on where specimen is sent; contact Client Services for additional information

Schedule:

Specimen Requirements:
• Peripheral blood, Preferred: 5 ml in EDTA (purple top) / Acceptable: 5 ml in sodium heparin (green top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in EDTA (purple top) / Acceptable: 1-2 ml in sodium heparin (green top) - OR -
• FFPE solid tumor tissue, Preferred: Paraffin block / Acceptable: 1 H&E plus 5-10 unstained slides cut at 5 or more microns

FLT3 Mutation Analysis pin

Send out test

Methodology: Send out test

Clinical Significance:

Organ:

Disease State:

CPT Code(s): Variable, depending on where specimen is sent; contact Client Services for additional information

Turnaround Time: Variable, depending on where specimen is sent; contact Client Services for additional information

Schedule:

Specimen Requirements:
• Peripheral blood, Preferred: 5 ml in EDTA (purple top) / Acceptable: 5 ml in sodium heparin (green top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in EDTA (purple top) / Acceptable: 1-2 ml in sodium heparin (green top) - OR -
• FFPE solid tumor tissue, Preferred: Paraffin block / Acceptable: 1 H&E plus 5-10 unstained slides cut at 5 or more microns

NRAS (for melanoma) pin

Send out test

Methodology: Send out test

Clinical Significance:

Organ:

Disease State:

CPT Code(s): Variable, depending on where specimen is sent; contact Client Services for additional information

Turnaround Time: Variable, depending on where specimen is sent; contact Client Services for additional information

Schedule:

Specimen Requirements:
• Peripheral blood, Preferred: 5 ml in EDTA (purple top) / Acceptable: 5 ml in sodium heparin (green top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in EDTA (purple top) / Acceptable: 1-2 ml in sodium heparin (green top) - OR -
• FFPE solid tumor tissue, Preferred: Paraffin block / Acceptable: 1 H&E plus 5-10 unstained slides cut at 5 or more microns

HRAS Mutation Analysis pin

Send out test

Methodology: Send out test

Clinical Significance:

Organ:

Disease State:

CPT Code(s): Variable, depending on where specimen is sent; contact Client Services for additional information

Turnaround Time: Variable, depending on where specimen is sent; contact Client Services for additional information

Schedule:

Specimen Requirements:
• Peripheral blood, Preferred: 5 ml in EDTA (purple top) / Acceptable: 5 ml in sodium heparin (green top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in EDTA (purple top) / Acceptable: 1-2 ml in sodium heparin (green top) - OR -
• FFPE solid tumor tissue, Preferred: Paraffin block / Acceptable: 1 H&E plus 5-10 unstained slides cut at 5 or more microns

MET Exon 14 Deletion Analysis pin

Send out test

Methodology: Send out test

Clinical Significance:

Organ:

Disease State:

CPT Code(s): Variable, depending on where specimen is sent; contact Client Services for additional information

Turnaround Time: Variable, depending on where specimen is sent; contact Client Services for additional information

Schedule:

Specimen Requirements:
Formalin-fixed, paraffin-embedded (FFPE) tissue block (preferred) or unstained slides (10 slides are usually sufficient)

TP53 Mutation Analysis pin

Send out test

Methodology: Send out test

Clinical Significance:

Organ:

Disease State:

CPT Code(s): Variable, depending on where specimen is sent; contact Client Services for additional information

Turnaround Time: Variable, depending on where specimen is sent; contact Client Services for additional information

Schedule:

Specimen Requirements:
• Peripheral blood, Preferred: 5 ml in EDTA (purple top) / Acceptable: 5 ml in sodium heparin (green top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in EDTA (purple top) / Acceptable: 1-2 ml in sodium heparin (green top) - OR -
• FFPE solid tumor tissue, Preferred: Paraffin block / Acceptable: 1 H&E plus 5-10 unstained slides cut at 5 or more microns

IgVH Mutation Analysis pin

Send out test

Methodology: Send out test

Clinical Significance:

Organ:

Disease State:

CPT Code(s): Variable, depending on where specimen is sent; contact Client Services for additional information

Turnaround Time: Variable, depending on where specimen is sent; contact Client Services for additional information

Schedule:

Specimen Requirements:
• Peripheral blood, Preferred: 5 ml in EDTA (purple top) / Acceptable: 5 ml in sodium heparin (green top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in EDTA (purple top) / Acceptable: 1-2 ml in sodium heparin (green top)

MGMT Promoter Methylation Analysis pin

Send out test

Methodology: Send out test

Clinical Significance:

Organ:

Disease State:

CPT Code(s): Variable, depending on where specimen is sent; contact Client Services for additional information

Turnaround Time: Variable, depending on where specimen is sent; contact Client Services for additional information

Schedule:

Specimen Requirements:
Formalin-fixed, paraffin-embedded (FFPE) tissue block (preferred) or unstained slides (10 slides are usually sufficient)

JAK2 Exon 12-14 Mutation Analysis pin

Send out test

Methodology: Send out test

Clinical Significance:

Organ:

Disease State:

CPT Code(s): Variable, depending on where specimen is sent; contact Client Services for additional information

Turnaround Time: Variable, depending on where specimen is sent; contact Client Services for additional information

Schedule:

Specimen Requirements:
• Specimen MUST be received within 48 hrs of collection
• Peripheral blood, Preferred: 5 ml in EDTA (purple top) / Acceptable: 5 ml in sodium heparin (green top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in EDTA (purple top) / Acceptable: 1-2 ml in sodium heparin (green top)

STAT3 Mutation Analysis pin

Send out test

Methodology: Send out test

Clinical Significance:

Organ:

Disease State:

CPT Code(s): Variable, depending on where specimen is sent; contact Client Services for additional information

Turnaround Time: Variable, depending on where specimen is sent; contact Client Services for additional information

Schedule:

Specimen Requirements:
• Peripheral blood, Preferred: 5 ml in EDTA (purple top) / Acceptable: 5 ml in sodium heparin (green top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in EDTA (purple top) / Acceptable: 1-2 ml in sodium heparin (green top)

SF3B1 Mutation Analysis pin

Send out test

Methodology: Send out test

Clinical Significance:

Organ:

Disease State:

CPT Code(s): Variable, depending on where specimen is sent; contact Client Services for additional information

Turnaround Time: Variable, depending on where specimen is sent; contact Client Services for additional information

Schedule:

Specimen Requirements:
• Peripheral blood, Preferred: 5 ml in EDTA (purple top) / Acceptable: 5 ml in sodium heparin (green top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in EDTA (purple top) / Acceptable: 1-2 ml in sodium heparin (green top)

MLH1 Promoter Methylation Analysis pin

Send out test

Methodology: Send out test

Clinical Significance:

Organ:

Disease State:

CPT Code(s): Variable, depending on where specimen is sent; contact Client Services for additional information

Turnaround Time: Variable, depending on where specimen is sent; contact Client Services for additional information

Schedule:

Specimen Requirements:
Formalin-fixed, paraffin-embedded (FFPE) tissue block (preferred) or unstained slides (10 slides are usually sufficient)

CXCR4 Mutation Analysis pin

Send out test

Methodology: Send out test

Clinical Significance:

Organ:

Disease State:

CPT Code(s): Variable, depending on where specimen is sent; contact Client Services for additional information

Turnaround Time: Variable, depending on where specimen is sent; contact Client Services for additional information

Schedule:

Specimen Requirements:
• Peripheral blood, Preferred: 5 ml in EDTA (purple top) / Acceptable: 5 ml in sodium heparin (green top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in EDTA (purple top) / Acceptable: 1-2 ml in sodium heparin (green top) - OR -
• FFPE solid tumor tissue, Preferred: Paraffin block / Acceptable: 1 H&E plus 5-10 unstained slides cut at 5 or more microns

NOTCH1 Mutation Analysis pin

Send out test

Methodology: Send out test

Clinical Significance:

Organ:

Disease State:

CPT Code(s): Variable, depending on where specimen is sent; contact Client Services for additional information

Turnaround Time: Variable, depending on where specimen is sent; contact Client Services for additional information

Schedule:

Specimen Requirements:
• Peripheral blood, Preferred: 5 ml in EDTA (purple top) / Acceptable: 5 ml in sodium heparin (green top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in EDTA (purple top) / Acceptable: 1-2 ml in sodium heparin (green top)

IDH1 and IDH2 Mutation Analysis pin

Send out test

Methodology: Send out test

Clinical Significance:

Organ:

Disease State:

CPT Code(s): Variable, depending on where specimen is sent; contact Client Services for additional information

Turnaround Time: Variable, depending on where specimen is sent; contact Client Services for additional information

Schedule:

Specimen Requirements:
• Peripheral blood, Preferred: 5 ml in EDTA (purple top) / Acceptable: 5 ml in sodium heparin (green top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in EDTA (purple top) / Acceptable: 1-2 ml in sodium heparin (green top) - OR -
• FFPE solid tumor tissue, Preferred: Paraffin block / Acceptable: 1 H&E plus 5-10 unstained slides cut at 5 or more microns

KIT Mutation Analysis (for melanoma) pin

Send out test

Methodology: Send out test

Clinical Significance:

Organ:

Disease State:

CPT Code(s): Variable, depending on where specimen is sent; contact Client Services for additional information

Turnaround Time: Variable, depending on where specimen is sent; contact Client Services for additional information

Schedule:

Specimen Requirements:
Formalin-fixed, paraffin-embedded (FFPE) tissue block (preferred) or H&E and 5 unstained slides cut at 5 micron

KIT Mutation Analysis (for mastocytosis) pin

Send out test

Methodology: Send out test

Clinical Significance:

Organ:

Disease State:

CPT Code(s): Variable, depending on where specimen is sent; contact Client Services for additional information

Turnaround Time: Variable, depending on where specimen is sent; contact Client Services for additional information

Schedule:

Specimen Requirements:
• Peripheral blood: 5 ml in EDTA (purple top)
• Bone marrow aspirate: 2 ml in EDTA (purple top

Specimen must arrive within 5 days of collection

Hyperdiploidy probes pin

FISH

Alternate Test Names:
CC3, CEP5, CEP7, CEP11, CC15

Methodology: FISH

Clinical Significance:

Organ:

Disease State:

CPT Code(s): 88367; 88373/88374 (reference only; CPTs may vary)

Turnaround Time: Within 3-4 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Peripheral blood, Preferred: 3 ml in sodium heparin (green top) / Acceptable: 3 ml in EDTA (purple top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in sodium heparin (green top) / Acceptable: 1-2 ml in EDTA (purple top) - OR -
• Fresh tissue in RPMI

ALK (2P23) translocations pin

FISH

Alternate Test Names:
EML4-ALK

Methodology: FISH

Clinical Significance:

Organ:

Disease State:

CPT Code(s): 88374 (reference only; CPTs may vary)

Turnaround Time: Within 3-4 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded tissue block or cell block - OR -
• Minimum of 5 unstained slide cut at 4µm for each test requested

Non Hodgkin Lymphoma (Indolent B-NHL) Panel - Paraffin pin

FISH

Panel Components:
IgH breakapart
t(14;18) IGH/BCL2
BCL6 breakapart
t(11;14) CCND1/IGH
MALT1 breakapart
* Panel makeup subject to change

Methodology: FISH

Clinical Significance:
These FISH studies identify the genetic alteration characteristic of several major categories of non Hodgkin B cell lymphoma. These include the t(14;18) IGH/BCL2 and BCL6 family of rearrangements identified in follicular lymphomas, the t(11;14) identified in mantle cell lymphoma, and MALT1 gene rearrangements that are identified in a subset of marginal zone B cell lymphomas. The identification of an IGH rearrangement in isolation can also aid in the diagnosis of atypical lymphoid proliferations even when its translocation partner is not elucidated.

Organ:

Disease State:

CPT Code(s): 88374x5 (reference only; CPTs may vary)

Turnaround Time: Within 3-4 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded tissue block or cell block - OR -
• Minimum of 5 unstained slide cut at 4µm for each test requested

Tech Only

TFE3(Xp11) pin

FISH

Methodology: FISH

Clinical Significance:
Translocations involving the TFE3 gene at Xp11.2 have been described in a subset of tumors including renal cell carcinomas as well as in alveolar soft part sarcoma (see reference 3). TFE3 FISH is therefore indicated where the presence of a TFE3 translocation is being considered during the pathologic evaluation of the tumor.

Organ: Kidney

Disease State:

CPT Code(s): 88374 (reference only; CPTs may vary)

Turnaround Time: Within 3-4 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded tissue block or cell block - OR -
• Minimum of 5 unstained slide cut at 4µm for each test requested

t(8;14)(IGH/MYC) pin

FISH

Methodology: FISH

Clinical Significance:

Organ:

Disease State:

CPT Code(s): 88374 (reference only; CPTs may vary)

Turnaround Time: Within 3-4 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Peripheral blood, Preferred: 3 ml in sodium heparin (green top) / Acceptable: 3 ml in EDTA (purple top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in sodium heparin (green top) / Acceptable: 1-2 ml in EDTA (purple top) - OR -
• Fresh tissue in RPMI - OR -
• Formalin-fixed, paraffin-embedded tissue (FFPE)

PU.1 pin

IHC

Methodology: IHC

Clinical Significance:

Organ:

Disease State:

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

BRG1 pin

IHC

Alternate Test Names:
SMARCA4

Methodology: IHC

Clinical Significance:

Organ:

Disease State:

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Extended KRAS/NRAS Panel (KRAS exons 3 & 4, NRAS exons 2,3 & 4) pin

PCR

Panel Components:
KRAS exons 3, 4
NRAS exons 2, 3, & 4

Methodology: PCR

Clinical Significance:
This assay uses pyrosequencing technology to detect clinically relevant mutations in KRAS codons 59, 61, 117 and 146; and in NRAS codons 12, 13, 59, 61, 117, and 146. See KRAS cobas® IVD (the Roche cobas® KRAS Mutation Test) for testing to detect the most common missense point mutations in codon 12 and 13 of KRAS exon 2.

RAS proteins are involved in the EGFR signal transduction pathway. Mutated RAS protein is constitutively activated and tumors carrying these activating mutations have been shown to be resistant to anti-EGFR directed therapy. According to joint guidelines recently issued by ASCP, CAP, AMP and ASCO (see reference below), all patients with colorectal carcinoma being considered for anti-EGFR therapy must undergo RAS mutation testing to determine eligibility. RAS mutation analysis should include KRAS codons 12 and 13 (evaluated by the FDA-approved cobas assay; see KRAS cobas IVD) as well as “extended” RAS testing targeting KRAS codons 59, 61, 117, and 146; and NRAS codons 12, 13, 59, 61, 117, and 146.

For colorectal carcinoma patients, PhenoPath recommends ordering RAS mutation testing in a reflexive manner, starting with this FDA-approved cobas® KRAS Mutation Test to test for KRAS exon 2 mutations, followed by extended RAS mutation testing if a KRAS exon 2 mutation is not detected (see Extended RAS Panel).

REFERENCE: Sepulveda AR, et al. Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology. J Mol Diagn 2017 19(2):187225.

Organ: Colon & Other GI

Disease State:

CPT Code(s): 81311, 81276; 88381 may apply (reference only; CPTs may vary)

Turnaround Time: Within 5-8 business days of receipt

Schedule: Tuesday and Thursday

Specimen Requirements:
Formalin-fixed, paraffin-embedded (FFPE) tissue block (preferred) or unstained slides (10 slides are usually sufficient)

RAS Panel (KRAS exon 3 & 4; NRAS exons 2,3 & 4) pin

PCR

Methodology: PCR

Clinical Significance:
Please refer to "Extended RAS"

Organ:

Disease State:

CPT Code(s):

Turnaround Time:

Schedule:

Specimen Requirements:

KRAS, cobas® Mutation Test IVD pin

PCR

Alternate Test Names:
KRAS, KRAS IVD, cobas® KRAS, KRAS exon 2, KRAS codons 12 & 13

Methodology: PCR

Clinical Significance:
This PCR assay uses the FDA-approved, Roche cobas® KRAS Mutation Test kit to detect the most common missense point mutations in codons 12 and 13 of KRAS exon 2. KRAS is a G-protein that is a key component of the EGFR signal transduction pathway. Mutated KRAS protein is constitutively activated and tumors carrying these activating mutations have been shown to be resistant to anti-EGFR directed therapy.

Please note that current guidelines for colorectal carcinoma molecular testing recommend that patients being considered for anti-EGFR therapy must undergo RAS mutation testing to determine eligibility. According to joint guidelines recently issued by ASCP, CAP, AMP and ASCO (see reference below), all patients with colorectal carcinoma being considered for anti-EGFR therapy must undergo “extended” RAS mutation testing that includes the following mutations: KRAS codons 12 and 13 (exon 2), KRAS codons 59 and 61 (exon 3), KRAS codons 117 and 146 (exon 4), NRAS codons 12 and 13 (exon 2) NRAS codons 59 and 61 (exon 3), and NRAS codons 117 and 146 (exon 4).

PhenoPath recommends ordering RAS mutation testing in a reflexive manner, starting with this FDA-approved cobas® KRAS Mutation Test to test for KRAS exon 2 mutations, followed by extended RAS mutation testing if a KRAS exon 2 mutation is not detected (see Extended RAS Panel).

REFERENCE: Sepulveda AR, et al. Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology. J Mol Diagn 2017 19(2):187225.

Organ: Colon & Other GI

Disease State:

CPT Code(s): 81275; 88381 may apply (reference only; CPTs may vary)

Turnaround Time: Within 3-6 business days of receipt

Schedule: Tuesday and Friday

Specimen Requirements:
Formalin-fixed, paraffin-embedded (FFPE) tissue block (preferred) or unstained slides (10 slides are usually sufficient)

HER2 4B5 pin

IHC

HER2 4B5

Alternate Test Names:
4B5

Methodology: IHC

Clinical Significance:
Identifies: The HER2 gene product, which is overexpressed, almost always as a consequence of HER2 gene amplification, in a subset of breast cancers, gastric adenocarcinomas, and other tumors. It is a prognostic and predictive marker, and the target of trastuzumab and other HER2 targeted therapies.

Subcellular Localization: Membranous

Organ: Breast, Colon & Other GI

Disease State: Breast Cancer

CPT Code(s): 88360 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

PD-L1 (clone SP142) pin

IHC

PD-L1 (clone SP142)

Alternate Test Names:
SP142
PDL1

Methodology: IHC

Clinical Significance:
VENTANA PD-L1 (SP142) assay is an FDA approved IVD assay using rabbit monoclonal anti-PD-L1 clone SP142 intended for assessment of the PD-L1 protein in urothelial carcinoma tissue. PD-L1 status is determined by the proportion of tumor area occupied by PD-L1 expressing tumor-infiltrating immune cells (%IC) of any intensity.

PD-L1 expression in ≥ 5% IC determined by VENTANA PD-L1 (SP142) assay in urothelial carcinoma tissue is associated with increased objective response rate (ORR) in a non-randomized study of Atezolizumab.

Subcellular Localization: Membranous (on immune cells)

Organ: Genitourinary

Disease State:

CPT Code(s): 88360 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 2 unstained slides for each test requested plus 3-4 additional unstained slides cut at 4µm

CXCL13 pin

IHC

CXCL13

Methodology: IHC

Clinical Significance:
CXCL13 is a chemokine that is a relatively specific marker of follicular helper T cells (TFH cells), the presumed cell of origin in angioimmunblastic T cell lymphoma and, to a lesser extent, other peripheral T cell lymphomas. Importantly, CXCL13 is a less sensitive but more specific marker of TFH cells than CD10, bcl-6, or PD-1. By immunohistochemistry, CXCL13 shows granular cytoplasmic reactivity in well-fixed FFPE, but may yield false negative results in suboptimally fixed FFPE.

Subcellular Localization: Cytoplasmic (typically granular)

Organ: Blood/Bone Marrow, Lymph Node / Spleen, Soft Tissue

Disease State: Angioimmunoblastic T Cell Lymphoma

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

H3K27me3 pin

IHC

H3K27me3

Alternate Test Names:
anti-Tri-Methyl-Histone-H3 (Lys27)

Methodology: IHC

Clinical Significance:
This antibody is used for the identification of malignant peripheral nerve sheet tumors (MPNST), approximately 50% of which show complete loss of expression of this nuclear protein. This loss of expression is highly specific to MPNST, and can help distinguish it from other sarcomas and spindle cell melanomas.

Subcellular Localization: Nuclear (Loss of expression)

Organ: Soft Tissue

Disease State: Spindle Cell Tumors / Sarcoma Subtyping

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule:

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

EGFR_Roche cobas® EGFR Plasma Mutation Test (IVD) pin

PCR

Alternate Test Names:
cobas EGFR PLASMA

Methodology: PCR

Clinical Significance:
The Roche cobas® EGFR Mutation Test v2 is an FDA-approved assay for identifying EGFR T790M, exon 19 deletions, and exon 21 L858R substitution mutations in circulating tumor DNA obtained from patients with non-small cell lung carcinoma. The identification of other clinically relevant EGFR mutations has been validated by PhenoPath Laboratories. Circulating tumor / “cell-free” DNA is isolated from plasma using the cobas® cfDNA Sample Preparation Kit; followed by amplification and detection of target DNA sequences using the cobas® z 480 analyzer.

Please note that tumor samples (such as cytology preparations, biopsies and resection specimens) are the most robust method for determining EGFR mutation status. EGFR mutation testing of circulating tumor DNA in plasma is inherently more likely to produce a false negative result. When detected, EGFR mutations identified in circulating tumor DNA are associated with EGFR mutation-positive tumors; however, testing of tumor samples is recommended whenever possible.

Organ: Lung

Disease State: Adenocarcinoma, Non Small Cell Lung Carcinoma (NSCLC)

CPT Code(s): 81235 (reference only; CPTs may vary)

Turnaround Time: Within 3-5 business days of receipt

Schedule: Once per week

Specimen Requirements:
--Minimum of 2 mL of plasma (following collection instructions below)
--Recommend 4-6 mL of plasma for testing
.
Collection Instructions:
--Venipuncture into K2-EDTA/plasma separator tube (ideally collect two to three 5 mL tubes; minimum of one 5 mL tube needed)
--Within 4 hours of collection; separate plasma by centrifugation
--Transfer plasma into transport tube
--Immediately ship to PhenoPath frozen on dry ice

Copy Control 9 (CC9) pin

FISH

Copy Control 9 (CC9)

Alternate Test Names:
CEP9 (9p11-q11.1)
Myeloma Panel test
Myeloproliferative Disorder (MPD) Panel test

Methodology: FISH

Clinical Significance:
Plasma cell myeloma (or multiple myeloma) is a malignant disorder in which clonal plasma cells accumulate in the bone marrow. This incurable disease is heterogeneous, with survival range varied from a few weeks of diagnosis to more than ten years. Other groups have published numerous studies demonstrating the presence of hyperdiploidy is associated with a favorable prognosis as these patients showed less aggressive clinical features, prolonged remission and higher survival. Hyperdiploidy is characterized by trisomy or tetrasomy of chromosomes 3, 5, 7, 9, 11, 15, 19, and/or 21.

Probe type: Enumeration

Organ: Blood/Bone Marrow, Body Fluids

Disease State: Plasma Cell Myeloma/Neoplasm

CPT Code(s): 88367 or 88373 (reference only; CPTs may vary)

Turnaround Time: Within 3-4 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Peripheral blood, Preferred: 3 ml in sodium heparin (green top) / Acceptable: 3 ml in EDTA (purple top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in sodium heparin (green top) / Acceptable: 1-2 ml in EDTA (purple top) - OR -
• Fresh tissue in RPMI

Tech Only

Calretinin pin

IHC

Calretinin

Methodology: IHC

Clinical Significance:
Antibodies to calretinin have been demonstrated to be a sensitive and relatively specific marker of mesothelial cells and mesothelioma, helping to distinguish the latter from adenocarcinoma. Also identifies ovarian stromal tumors.

Subcellular Localization: Nuclear and cytoplasmic

Organ: Lung, OB/GYN, Ovary

Disease State: Mesothelioma vs. Adenocarcinoma

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

CD31 pin

IHC

CD31

Alternate Test Names:
PECAM-1

Methodology: IHC

Clinical Significance:
Identifies PECAM-1, a cell surface adhesion molecule expressed on the surface of endothelial cells and is an excellent marker of vascular neoplasms, e.g., angiosarcoma. CD31 can also be expressed by platelets, macrophages, and plasma cells.

Subcellular Localization: Membranous

Organ:

Disease State: Large Cell Undifferentiated Malignant Neoplams, Spindle Cell Tumors / Sarcoma Subtyping

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

ROS1 pin

IHC

Alternate Test Names:
ROS, MCF3, c-ros-1

Methodology: IHC

Clinical Significance:
ROS1 (also know as ROS, MCF3 and c-ros-1) is a proto-oncogene highly expressed in a variety of tumor cells. Immunohistocheminal localization of ROS1 can be used to distinguish cancers containing the ROS1 translocation and may serve as a possible surrogate for ROS1 FISH using a breakapart probe.

The c-ROS oncogene 1 receptor tyrosine kinase (ROS1) gene is located on human chromosome 6. Rearrangement of ROS1 results in the production of constitutively active fusion proteins that have been reported in non-small cell lung cancers (NSCLC). ROS1 fusion protein plays a central role in cancer growth and development by increasing the translation of genes associated with cell proliferation, migration and metastasis. Published data suggest that ROS1-rearranged cancers respond to ALK inhibitors. The performance characteristics of this antibody, as established by PhenoPath, justify its use as an alternative to, or in conjunction with, ROS1 FISH for the identification of lung adenocarcinomas harboring ROS1 gene translocations.

Subcellular Localization: Cytoplasmic

Organ: Lung

Disease State: Non Small Cell Lung Carcinoma (NSCLC)

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Lambda by ISH pin

CISH

Lambda by ISH

Methodology: CISH

Clinical Significance:
Kappa and lambda immunoglobulin light chains are expressed by plasma cells and plasmacytoid lymphocytes. They are also expressed, but less reliably detected, on B cells with weak cytoplasmic staining. However, immunoglobulin are also a major component of serum, leading to (in many tissue types) high background/non-specific staining which may obscure the detection/observation of light chain restriction among B lineage cells. This non-specific staining also impedes the assessment of light chain skewing in non-neoplastic populations.

As all proteins are translated from mRNA, detection of mRNA transcripts can be a useful surrogate for protein expression and therefore in-situ hybridization for kappa and lambda mRNA transcripts can be used to determine the light chain restriction status for plasma cell and plasmacytoid B cell populations.

Subcellular Localization: Cytoplasmic

Organ: Blood/Bone Marrow, Lymph Node / Spleen

Disease State: Amyloid Type Analysis, B Cell NHL with Plasmacytoid Differentiation, HIV-Associated Lymphoma, Plasma Cell Myeloma/Neoplasm, Post-Transplant Lymphoproliferative Disorders

CPT Code(s): 88365 or 88364 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

Kappa by ISH pin

CISH

Kappa by ISH

Methodology: CISH

Clinical Significance:
Kappa and lambda immunoglobulin light chains are expressed by plasma cells and plasmacytoid lymphocytes. They are also expressed, but less reliably detected, on B cells with weak cytoplasmic staining. However, immunoglobulin are also a major component of serum, leading to (in many tissue types) high background/non-specific staining which may obscure the detection/observation of light chain restriction among B lineage cells. This non-specific staining also impedes the assessment of light chain skewing in non-neoplastic populations.

As all proteins are translated from mRNA, detection of mRNA transcripts can be a useful surrogate for protein expression and therefore in-situ hybridization for kappa and lambda mRNA transcripts can be used to determine the light chain restriction status for plasma cell and plasmacytoid B cell populations.

Subcellular Localization: Cytoplasmic

Organ: Blood/Bone Marrow, Lymph Node / Spleen

Disease State: Amyloid Type Analysis, B Cell NHL with Plasmacytoid Differentiation, HIV-Associated Lymphoma, Plasma Cell Myeloma/Neoplasm, Post-Transplant Lymphoproliferative Disorders

CPT Code(s): 88365 or 88364 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

FOXP3 pin

IHC

FOXP3

Methodology: IHC

Clinical Significance:
The main clinical indication for FOXP3 IHC is expected to be immunophenotyping of tumor infiltrating lymphocytes (TILs) in human tumors. However, unforeseen clinical indications cannot be excluded.

FOXP3 is a relatively specific marker of regulatory T cells (Tregs) which normally function to limit T cell-driven immune responses. Tregs are also involved in the immune evasion mechanisms promoted by cancer. Studies on several types of cancer suggested that high levels of Treg infiltration of the tumor bed are associated with poor clinical outcome (Martin F et al. 2010. Oncogene). In addition to FOXP3 expression in the tissues noted below, FOXP3 may be seen in the tumor infiltrating T cells in any type of human tomor.

Subcellular Localization: Nuclear

Organ: Blood/Bone Marrow, Lymph Node / Spleen, Thymus (Mediastinal Mass)

Disease State: T Cell Non-Hodgkin Lymphoma (not otherwise classified)

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

PD-L1 (clone 28-8) pharmDx pin

IHC

PD-L1 (clone 28-8) pharmDx

Alternate Test Names:
28-8
PDL1

Methodology: IHC

Clinical Significance:
PD-L1 IHC 28-8 pharmDx is the only FDA-approved complementary test for PD-L1 expression associated with enhanced survival with OPDIVO® (nivolumab) for non-squamous NSCLC.

PD-L1 IHC 28-8 pharmDx is a complementary diagnostic to assess NSCLC patients for OPDIVO® (nivolumab).

Per the Dako SK005 Data Sheet, “OPDIVO® (nivolumab) is a human immunoglobulin G4 (IgG4) monoclonal antibody that binds to PD-1 receptor and blocks its interaction with PD-L1 and PD-L2, releasing PD-1 pathway mediated inhibition of the immune response, including the anti-tumor immune response.”

PD-L1 protein expression is defined as the percentage of tumor cells exhibiting positive membrane staining at any intensity, and will be scored according to the guidelines provided in the package insert and Interpretive Manual provided by Dako.

Subcellular Localization: Membranous

Organ: Lung

Disease State: Non Small Cell Lung Carcinoma (NSCLC)

CPT Code(s): 88360 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 2 unstained slides for each test requested plus 3-4 additional unstained slides cut at 4µm

EGFR_Roche cobas® EGFR Mutation Test (IVD) pin

PCR

Alternate Test Names:
cobas® EGFR IVD

Methodology: PCR

Clinical Significance:
The Roche cobas® EGFR Mutation Test v2 is an FDA-approved companion diagnostic for both first and second line therapy decisions for patients with non-small cell lung carcinoma (NSCLC). This assay is FDA approved for identifying NSCLC patients with EGFR exon 19 deletions and exon 21 (L858R) substitution mutations for whom treatment with Tarceva® (erlotinib) may be effective as a first line therapy; and for identifying NSCLC patients who harbor a T790M mutation, indicating eligibility for treatment with Tagrisso® (osimertinib) as second line therapy. Per the FDA news release of November 13, 2015, Tagrisso® (AZD9291) is the only approved medicine indicated for patients with metastatic EGFR T790M mutation-positive NSCLC who have progressed on or after EGFR tyrosine kinase inhibitor therapy.

Effective Tuesday, November 17, 2015, the Roche cobas® EGFR Mutation Test v2 replaced PhenoPath’s prior EGFR mutation assay. The Roche cobas® assay similarly uses qualitative real-time PCR to detect clinically relevant mutations in exons 18, 19, 20, and 21 of the EGFR gene and provides improved sensitivity as only 5% mutant allele is needed for reliable mutation detection in a background of wild-type DNA. In addition, the cobas® EGFR assay covers a greater number of mutations, identifying 42 mutations in exons 18-21, as compared to the 21 mutations covered by PhenoPath’s prior assay.

Organ: Lung

Disease State: Adenocarcinoma, Non Small Cell Lung Carcinoma (NSCLC)

CPT Code(s): 81235; 88381 may apply (reference only; CPTs may vary)

Turnaround Time: Within 3-5 business days of receipt

Schedule: Tu, W, F

Specimen Requirements:
Formalin-fixed, paraffin-embedded (FFPE) tissue block (preferred) or unstained slides (10 slides are usually sufficient)

ATRX pin

IHC

ATRX

Alternate Test Names:
Alpha Thalassemia/Mental Retardation Syndrome X-Linked

Methodology: IHC

Clinical Significance:
The absence of expression of ATRX will be used to assist in the subclassification of gliomas.

Studies in the published literature have demonsrtrated that loss of expression of ATRX (Alpha Thalassemia/Mental Retardation Syndrome X-Linked) in grade II/III astrocytomas as determined by immunohistochemistry corresponds to the presence of ATRX mutations. Most ATRX-loss gliomas also have IDH1 mutations, and show overexpression of p53 with the presence of corresponding p53 mutations. Gliomas with ATRX loss almost never show 1p/19q co-deletion. The vast majority of grade II/III gliomas can be categorized into 3 molecular subtypes based on status of IDH1 mutation, ATRX immunohistochemistry, and 1p/19q co-deletion.

Subcellular Localization: nuclear

Organ: Brain/CNS

Disease State: Astrocytoma, Oligodendroglioma

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

CD22 pin

IHC

CD22

Methodology: IHC

Clinical Significance:
CD22 is a B cell specific surface antigen expressed in mature B cells, and positive on B-cell neoplasms such as mantle cell lymphoma (MCL) and chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).

Subcellular Localization: Membranous

Organ:

Disease State: Chronic Lymphocytic Leukemia / Small Lymphocytic Lymphoma (CLL/SLL), Mantle Cell Lymphoma

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

PD-L1 (clone 22C3) pharmDx pin

IHC

PD-L1 (clone 22C3) pharmDx

Alternate Test Names:
22C3
PDL1

Methodology: IHC

Clinical Significance:
PD-L1 IHC 22C3 pharmDx is the first and only FDA-approved companion diagnostic to assess NSCLC patients for eligibility for treatment with KEYTRUDA® (pembrolizumab).

Per the Dako SK006 Data Sheet, “KEYTRUDA® (pembrolizumab) is a humanized monoclonal antibody that binds to the PD-1 receptor and blocks its interaction with PD-L1 and PD-L2, releasing PD-1 pathway-mediated inhibition of the immune response, including the anti-tumor immune response. PD-L1 IHC 22C3 pharmDx is indicated as an aid in identifying NSCLC patients for treatment with KEYTRUDA®”.

PD-L1 protein expression is determined by using Tumor Proportion Score (TPS), which is the percentage of viable tumor cells showing partial or complete membrane staining. A TPS ≥ 50% is positive for PD-L1.

Organ: Colon & Other GI, Lung

Disease State: Non Small Cell Lung Carcinoma (NSCLC)

CPT Code(s): 88360 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 2 unstained slides for each test requested plus 3-4 additional unstained slides cut at 4µm

ALK protein (p80) pin

IHC

ALK protein (p80)

Methodology: IHC

Clinical Significance:
Identifies anaplastic large cell lymphoma and other T cell lymphomas. ALK is a protein overexpressed as a consequence of the (2;5) translocation that is found in anaplastic large cell lymphoma (ALCL). Expression of ALK is also seen in embryonal carcinomas and in a subset of inflammatory myofibroblastic tumors.

Subcellular Localization: Nuclear and cytoplasmic

Organ:

Disease State: Anaplastic Large Cell Lymphoma (Systemic or Cutaneous), Large Cell Undifferentiated Malignant Neoplams

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

CD56 (NCAM) pin

IHC

CD56 (NCAM)

Alternate Test Names:
NCAM

Methodology: IHC

Clinical Significance:
Identifies neural cell adhesion molecule (NCAM), a cell surface-associated protein expressed by NK cells and a subset of activated T cells, in addition to a variety of neuroectodermally-derived structures. CD56 is expressed on the majority of NK cell neoplasms, and on a subset of T cell neoplasms. CD56 is aberrantly expressed by myeloid blasts, granulocytes, and/or monocytes in a subset of acute myeloid leukemias and myelodysplastic/myeloproliferative syndromes, and by the neoplastic plasma cells in a large subset of multiple myelomas. Finally, CD56 is strongly expressed by small blue round cell tumors of neuroectodermal origin, and by neuroendocrine carcinomas.

Subcellular Localization: Membranous

Organ: Brain/CNS

Disease State: Acute Myeloid Leukemia (AML) / Myeloid Sarcoma, Blastic Plasmacytoid Dendritic Cell Neoplasm, NK/T Cell Lymphoma, Nasal Type, Small, Blue, Round Cell Tumors

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

Calreticulin Exon 9 pin

PCR

Calreticulin Exon 9

Alternate Test Names:
CALR

Methodology: PCR

Clinical Significance:
Length-affecting mutations (insertions or deletions) within exon 9 of the Calreticulin (CALR) gene have been described in approximately 70% of essential thrombocythemia (ET) and approximately 60-80% of primary myelofibrosis (PMF) patients without JAK2 or MPL mutations. CALR exon 9 insertion/deletion mutations have not been identified in polycythemia vera (PV) patients.

Organ: Blood/Bone Marrow

Disease State: Myeloproliferative Neoplasms, Including Chronic Myelogenous Leukemia (CML)

CPT Code(s): 81219 (reference only; CPTs may vary)

Turnaround Time: Within 4-8 business days of receipt

Schedule: Friday

Specimen Requirements:
Formalin-fixed, paraffin-embedded (FFPE) tissue block, 10 FFPE tissue slides, or peripheral blood or bone marrow in EDTA or heparin.

Growth Hormone (GH) pin

IHC

Growth Hormone (GH)

Alternate Test Names:
GH

Methodology: IHC

Clinical Significance:
Identifies: Pituitary hormone expressed in somatotroph, mammosomatotroph, and some lactotroph adenomas.

Subcellular Localization: Cytoplasmic

Organ: Brain/CNS, Hormones, Pituitary

Disease State:

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

CD1a pin

IHC

CD1a

Methodology: IHC

Clinical Significance:
CD1a is a cell surface-associated protein expressed at the "dual-positive" stage of T cell development, which is the stage at which CD4 and CD8 are coexpressed on immature T cells in the thymus. CD1a is expressed on a subset of precursor T lymphoblastic leukemias/lymphomas corresponding to this stage of T cell development. CD1a is also expressed on the great majority of normal and neoplastic Langerhans cells.

Subcellular Localization: Membranous and cytoplasmic

Organ:

Disease State: Langerhans Cell Histiocytosis, Precursor T-Lymphoblastic Lymphoma/Leukemia (T-ALL)

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

CD10 (CALLA) pin

IHC

CD10 (CALLA)

Alternate Test Names:
CALLA

Methodology: IHC

Clinical Significance:
CD10 ia a follicular B cell surface marker also known as CALLA. It is also expressed in a subset of non-hematopoietic tumors, including atypical fibroxanthoma.

Organ: Breast, Skin & Mucosa

Disease State: Angioimmunoblastic T Cell Lymphoma, Breast Cancer, Diffuse Large B Cell Lymphoma, Follicular Lymphoma, Spindle Cell Tumors / Sarcoma Subtyping

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

BAP1 pin

IHC

BAP1

Alternate Test Names:
BRCA-associated protein 1

Methodology: IHC

Clinical Significance:
BAP1 is a ubiquitin hydrolase and has been shown to enhance BRCA1-mediated cell growth suppression, and functions as a tumor suppressor gene. Loss of expression of BAP1 by immunohistochemistry correlates well with the presence of either BAP1 mutations or deletions at the DNA level. In a 2015 study, we have demonstrated that in the context of mesothelial lesions, BAP1 loss is 100% specific for mesothelioma, albeit with low (27%) sensitivity. However, when combined with p16 FISH a sensitivity of 58% for mesothelioma can be attained (Sheffield BS et al., Am J Surg Pathol 39:977-82, 2015).

This IHC test is clinically indicated for diagnostic purposes. Specifically, it will be used in conjunction with P16 FISH probe to separate benign from malignant mesothelial proliferations, and is particularly useful when tissue invasion by mesothelial cells cannot be demonstrated. However, combined BAP1/p16 FISH testing is not highly sensitive, and negative results do not rule out a mesothelioma.

Subcellular Localization: nuclear

Organ: Lung, Ovary

Disease State: Benign vs. Malignant Mesothelial Proliferations, Mesothelioma vs. Adenocarcinoma

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

STAT 6 pin

IHC

STAT 6

Alternate Test Names:
STAT6
Signal Transducer and Activator of Transcription

Methodology: IHC

Clinical Significance:
STAT (Signal Transducer and Activator of Transcription) proteins are transcription factors that are normally located in the cytoplasm in latent form and migrate to the nucleus on cytokine exposure and subsequent phosphorylation. Studies have demonstrated the presence of recurrent fusions between NAB2 and STAT6 in chromosome 12q13 in the majority of solitary fibrous tumors/hemangiopericyomas. Nuclear STAT6 immunoreactivity has been reported as a surrogate marker for the NAB2-STAT6 gene fusion, which is the defining driver mutation of solitary fibrous tumor/hemangiopericytoma.

Subcellular Localization: nuclear

Organ: Soft Tissue

Disease State: Hemangiopericytoma, Solitary Fibrous Tumor, Spindle Cell Tumors / Sarcoma Subtyping

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

IGH Breakapart pin

FISH

IGH Breakapart

Alternate Test Names:
IGH (14q32)
CLL/SLL Panel test
MYC Panel test
Non Hodgkin Lymphoma (Agressive B-NHL) Panel test
Non Hodgkin Lymphoma (Indolent B-NHL) Panel test

Methodology: FISH

Clinical Significance:
This sensitive breakapart FISH assay detects any translocation involving the IGH gene, although it does not identify the gene with which it is partnered. Many different translocation partners for the IGH gene have been identified in human B cell lymphoma including BCL2 in follicular lymphomas resulting in the t(14;18), CCND1 in mantle cell lymphoma resulting in the t(11;14), MYC in Burkitt's lymphoma resulting in the t(8;14), MALT1 in malt lymphoma resulting in the t(14;18), and CMAF and FGFR3 in myeloma reulting in the t(14;16) and t(4;14), respectively. IGH translocations are also frequently seen in diffuse large B cell lymphoma (DLBCL).

Probe type: Dual color breakapart

Organ: Blood/Bone Marrow, Body Fluids, Colon & Other GI, Lymph Node / Spleen, Skin & Mucosa

Disease State: B Cell Non-Hodgkin Lymphoma (not otherwise classified), Burkitt's Lymphoma, Chronic Lymphocytic Leukemia / Small Lymphocytic Lymphoma (CLL/SLL), Diffuse Large B Cell Lymphoma, Follicular Lymphoma, Mantle Cell Lymphoma, Marginal Zone/MALT Lymphoma, Plasma Cell Myeloma/Neoplasm

CPT Code(s): 88374 (reference only; CPTs may vary)

Turnaround Time: Within 3-4 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Peripheral blood, Preferred: 3 ml in sodium heparin (green top) / Acceptable: 3 ml in EDTA (purple top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in sodium heparin (green top) / Acceptable: 1-2 ml in EDTA (purple top) - OR -
• Fresh tissue in RPMI - OR -
• Formalin-fixed, paraffin-embedded tissue (FFPE)

Tech Only

TdT pin

IHC

TdT

Alternate Test Names:
Terminal deoxynucleotidyltransferase

Methodology: IHC

Clinical Significance:
Identifies: Terminal deoxynucleotidyltransferase, a specialized DNA polymerase expressed in immature, pre-B, pre-T lymphoid cells, and also the majority of precursor B- and T-lymphoblastic leukemias/lymphomas. TdT is aberrantly expressed in a small subset of acute myeloid leukemias.

Subcellular Localization: Nuclear

Organ:

Disease State: Blastic Plasmacytoid Dendritic Cell Neoplasm, Small, Blue, Round Cell Tumors

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

HLA-DR (MHC class II) pin

IHC

HLA-DR (MHC class II)

Alternate Test Names:
Class II histocompatibility antigen; HLADR

Methodology: IHC

Clinical Significance:
Identifies: HLA-DR (class II histocompatibility antigen). Expressed in lymphomas and leukemias, both myeloid and lymphoid. Examples include acute myeloid leukemias (AML), and chronic myelomonocytic leukemias (CMML). Expression varies in each neoplasm, depending on various factors, including cell maturity and differentiation. HLA-DR has been shown to be consistently expressed in most AMLs of non-M3 (Acute promyelocytic or APL) type, and has been shown to be helpful in differentiating myeloblastic from promyelocytic variants.

Subcellular Localization: Membranous

Organ:

Disease State: Blastic Plasmacytoid Dendritic Cell Neoplasm

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

PD-L1 (clone EIL3N) pin

IHC

PD-L1 (clone EIL3N)

Alternate Test Names:
PDL1
Programmed Death-Ligand 1, CD274

Methodology: IHC

Clinical Significance:
PD-L1 (Programmed Death-Ligand 1), also known as CD274, is a 40 kDa type 1 transmembrane protein that has been speculated to play a major role in suppressing the immune system. Binding of PD-L1 to its ligand PD-1, which is expressed by various immune cell types including T cells, transmits an inhibitory signal that attenuates T cell function, expansion, and survival.

Many tumors types can express PD-L1, including breast, ovarian, gastric, pancreatic, lung and renal cell carcinomas, and classical Hodgkin lymphoma. PD-L1 expression by tumor cells is thought to inhibit the local immune response to the tumor, at least in part by binding to T cell PD-1 and protecting the tumor from T-cell mediated immunity.

Blockade of the PD-1/PD-L1 axis by humanized monoclonal antibodies against PD-1 and PD-L1 has emerged as a promising new cancer therapy. The anti-PD-1 antibodies nivolumab and pembrolizumab have received FDA approval for treating metastatic squamous NSCLC and metastatic melanoma, respectively. Expression of PD-L1 by tumors may predict response to these drugs.

The main clinical indication for PD-L1 IHC is expected to be assessment of PD-L1 expression on tumor cells prior to the initiation of therapy targeting the PD-1 / PD-L1 axis. However, unforeseen clinical indications cannot be excluded.

Subcellular Localization: membranous and cytoplasmic

Organ: Lung, Skin & Mucosa

Disease State: Melanoma, Non Small Cell Lung Carcinoma (NSCLC)

CPT Code(s): 88360 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

INPP4B pin

IHC

INPP4B

Alternate Test Names:
inositol polyphosphate 4-phosatase type II

Methodology: IHC

Clinical Significance:
INPP4B encodes the inositol polyphosphate 4-phosatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways.

This antibody is useful as a diagnostic aid for basal like breast carcinomas, as the absence of expression of INPP4B, has been shown in our hands to have a 90% sensitivity and 80% specificity for basal-like breast carcinomas, which closely reflects the reported literature.

INPP4B will be run in a panel with other antibodies used in the diagnosis of basal-like breast carcinomas, such as, Nestin, Keratin 5, and c-kit.

Subcellular Localization: membranous and cytoplasmic

Organ: Breast

Disease State: Breast Cancer

CPT Code(s): 88360 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

MYD88 L265P Mutation pin

PCR

MYD88 L265P Mutation

Methodology: PCR

Clinical Significance:
The MYD88 L265P mutation is detected in ~90% of lymphoplasmacytic lymphoma (LPL)/Waldenstrom Macroglobulinemia (WM) cases, ~30% of activated/non-germinal center type diffuse large B cell lymphomas, ~40% of central nervous system lymphomas, and ~50% of IgM monoclonal gammopathies of undetermined significance (IgM-MGUS). Of note, the presence of an MYD88 L265P mutation has been associated with a higher risk progression in patients with IgM-MGUS. However, the MYD88 L265P mutation is not exclusively identified in these neoplasms and has been reported in other diagnostic entitites.

Organ: Blood/Bone Marrow, Lymph Node / Spleen

Disease State: Diffuse Large B Cell Lymphoma, Lymphoplasmacytic Lymphoma

CPT Code(s): 81479 (reference only; CPTs may vary)

Turnaround Time: Within 4-8 business days of receipt

Schedule: Thursday

Specimen Requirements:
Formalin-fixed, paraffin-embedded (FFPE) tissue block, 10 FFPE tissue slides, or peripheral blood or bone marrow in EDTA or heparin.

SOX10 pin

IHC

SOX10

Alternate Test Names:
SRY-related HMG-Box gene 10

Methodology: IHC

Clinical Significance:
SOX10 is a highly specific and sensitive nuclear transcription factor found in nerve sheath tumors (e.g., schwannomas) and melanomas. It is also expressed in the majority of desmoplastic and spindle cell melanomas. While S100 is also positive on these tumors, SOX10 is far more specific than S100. SOX10 has also been found to be expressed in salivary gland as well as soft tissue tumors showing myoepithelial differentiation.

SOX 10 should be employed in the context of a panel of antibodies for the identification of melanoma and nerve sheath tumors.

Subcellular Localization: Nuclear

Organ: Skin & Mucosa, Soft Tissue

Disease State: Melanoma

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

Blood Group A pin

IHC

Blood Group A

Alternate Test Names:
Bld Grp A.2

Methodology: IHC

Clinical Significance:
Identifies all epithelial tissues expressing the blood group A. Useful for identification of floaters, i.e., of contaminating tissues derived from patients of different blood group types.

Subcellular Localization: Membranous and cytoplasmic

Organ:

Disease State: Identification of Floaters

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

CDH17 pin

IHC

CDH17

Alternate Test Names:
Cadherin 17
LI-Cadherin
Liver-Intestine Cadherin
human peptide transporter 1
HPT-1

Methodology: IHC

Clinical Significance:
Cadherin 17 is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption. Cadherin 17 is expressed in the epithelial cells of embryonic and adult small intestine, colon, and pancreatic ducts. It has also been reported to be frequently expressed in adenocarcinomas arising in the gastrointestinal tract and pancreas. Owing to its restricted expression in these groups of tumors, cadherin 17 can be a useful immunohistochemical marker for assisting in distinguishing these neoplasms from other malignancies.

The performance characteristics of this antibody have been established within the context of carcinomas arising at different primary sites. This anti-cadherin 17 antibody displays a sensitivity of 95% and a specificity of 95% for colorectal adenocarcinoma.

Subcellular Localization: predominantly membranous with a smaller cytoplasmic component

Organ: Colon & Other GI

Disease State: Adenocarcinoma, Carcinomas of Unknown Primary, Metastatic Carcinoma

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

HGAL pin

IHC

HGAL

Alternate Test Names:
GCET2, GCAT2, GCSAM

Methodology: IHC

Clinical Significance:
HGAL - also known as GCET2, GCAT2, and GCSAM – is a cytoplasmic protein expressed by benign and neoplastic follicle center (germinal center)-derived B cells. As part of a panel of IHC antibodies, the HGAL antibody is useful to distinguish follicle center-derived B cell non-Hodgkin lymphoma (B-NHL) from other B cell proliferations.


Subcellular Localization: Cytoplasmic

Organ: Lymph Node / Spleen

Disease State: Burkitt's Lymphoma, Diffuse Large B Cell Lymphoma, Follicular Lymphoma

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

Cathepsin K pin

IHC

Cathepsin K

Methodology: IHC

Clinical Significance:
Cathepsin K is a protease that is involved in bone resorption, and is highly expressed in osteoclast. Its expression has also been demonstrated in normal skin and lung fibroblasts. In neoplastic tissue, Cathepsin K has been reported to be expressed in most mesenchymal tumors, but only rarely in carcinomas.

Cathepsin K is positive in the majority of translocation renal cell carcinomas (seven of the Alpha-TFEB gene fusion translocation), and in all 5 of the most common TFE3-positive renal cell carcinomas bearing the t(X;1)(p11.2;q21) translocation. This assay is intended for the identification of these renal cell carcinomas.

Published data suggest that TFE3 expression leads to cathepsin K expression. While less sensitive than TFE3, cathepsin K has also been demonstrated in a subset of renal cell carcinomas showing a different translocation, t(6;11). While these latter translocations cannot be identified with antibodies to TFE3, they may account for the apparent reduced specificity of cathepsin K in our study, as the TFE3-negative, Cathepsin K-positive renal cell carcinomas may well correspond to these t(6;11) translocation renal cell carcinomas.

Final determination of translocation status in renal cell carcinomas may require FISH or PCR studies.

Subcellular Localization: Cytoplasmic

Organ: Genitourinary

Disease State:

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

Nestin pin

IHC

Nestin

Methodology: IHC

Clinical Significance:
Expression of Nestin, a common marker of neural progenitor cells, is associated with the triple-negative/basal-like phenotype and poor prognosis. Nestin, in a survey of 46 biomarkers, ranked second highest, as well as having 54% sensitivity and 96% specificity for basal-like breast carcinomas (Won, et al, Modern Pathology 2013;26:1438-1450). A 2-marker panel for identification of basal-like breast carcinomas comprised of INPP4B negativity and/or Nestin positivity was observed to have 83% sensitivity and 96% specificity according to published literature (Parry, et al J Clin Pathol 2008;61:1045-1050).

Basal-like and/or triple negative breast cancers account for approximately 15% of all breast carcinomas. They are predominately high grade and are associated with early onset, as well as a poor prognosis. The triple negative immunophenotype is known to be an imperfect correlate of the basal-like genotype as determined by molecular studies. Studies have suggested that Nestin might serve as a useful marker of basal-like breast cancers. Using the 10c2 mouse monoclonal antibody to Nestin, we demonstrated 70% sensitivity and 100% specificity, which is higher than the reported literature.

Nestin will be run in a panel with other antibodies, including INPP4B, to identify basal-like breast cancers.

Subcellular Localization: cytoplasmic

Organ: Breast

Disease State: Breast Cancer

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

MNDA pin

IHC

MNDA

Alternate Test Names:
Myeloid cell Nuclear Differentiation Antigen

Methodology: IHC

Clinical Significance:
Although the expression of MNDA was initially thought to be restricted to the myelomonocytic lineage, several studies have shown the expression of this protein by normal and neoplastic B lymphocytes. MNDA has been shown to be expressed in splenic marginal zone lymphomas, mantle cell lymphomas, nodal marginal zone lymphomas and hairy cell leukemia.

MNDA (clone 253A) will be used as part of a larger IHC panel to help distinguish marginal zone B cell lymphoma (MZL) from follicle center-derived B cell lymphoma, particularly CD10-negative FL.

Subcellular Localization: Almost entirely Nuclear

Organ: Blood/Bone Marrow, Lymph Node / Spleen

Disease State: Chronic Lymphocytic Leukemia / Small Lymphocytic Lymphoma (CLL/SLL), Hairy Cell Leukemia, Mantle Cell Lymphoma, Marginal Zone/MALT Lymphoma

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

Myoglobin pin

IHC

Myoglobin

Alternate Test Names:
Mouse Monoclonal, clone MG-1

Methodology: IHC

Clinical Significance:
Antibodies to myoglobin can be employed to identify myoglobin-containing casts within renal tubules, which can be seen following rhabdomyolysis and in cases of myoglobin cast nephropathy.
Myoglobin is NOT recommended as a marker of rhabdomyosarcoma, as much more sensitive markers such as myogenin, myoD1, and desmin are best employed in this setting.

Clinical Indication(s): This anti-myoglobin antibody will be used to identify the presence of myoglobin-containing tubular casts in the lumina of renal tubules.

Subcellular Localization: Cytoplasmic

Organ: Kidney

Disease State: Renal disease

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

GATA-3 pin

IHC

GATA-3

Alternate Test Names:
GATA3, Clone L50-823

Methodology: IHC

Clinical Significance:
GATA-3 is a zinc finger nuclear transcription factor that is a highly sensitive marker of carcinomas primary to the bladder and breast. GATA-3 is also expressed in a subset of squamous cell carcinomas, skin adnexal tumors, mesotheliomas, and salivary gland tumors, among others (Miettinen M et al. AJSP 38:13-22, 2014).

Organ: Breast, Genitourinary

Disease State: Breast Cancer, Carcinomas of Unknown Primary

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

CEP12 pin

FISH

Alternate Test Names:
CEP12 (12p11.1)
CLL/SLL Panel test

Methodology: FISH

Clinical Significance:

Organ: Blood/Bone Marrow, Body Fluids, Lymph Node / Spleen

Disease State: Chronic Lymphocytic Leukemia / Small Lymphocytic Lymphoma (CLL/SLL)

CPT Code(s): 88367 or 88373 (reference only; CPTs may vary)

Turnaround Time: Within 3-4 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Peripheral blood, Preferred: 3 ml in sodium heparin (green top) / Acceptable: 3 ml in EDTA (purple top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in sodium heparin (green top) / Acceptable: 1-2 ml in EDTA (purple top) - OR -
• Fresh tissue in RPMI

Tech Only

17p13.1_P53 pin

FISH

Alternate Test Names:
CLL/SLL Panel test; Myeloma Panel test

Methodology: FISH

Clinical Significance:

Organ: Blood/Bone Marrow, Body Fluids, Lymph Node / Spleen

Disease State: Chronic Lymphocytic Leukemia / Small Lymphocytic Lymphoma (CLL/SLL), Plasma Cell Myeloma/Neoplasm

CPT Code(s): 88374 (reference only; CPTs may vary)

Turnaround Time: Within 3-4 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Peripheral blood, Preferred: 3 ml in sodium heparin (green top) / Acceptable: 3 ml in EDTA (purple top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in sodium heparin (green top) / Acceptable: 1-2 ml in EDTA (purple top) - OR -
• Fresh tissue in RPMI

Tech Only

13q14.3_D13S319 pin

FISH

Alternate Test Names:
CLL/SLL Panel test
Myeloma Panel test
Myeloproliferative Disorder (MPD) Panel test

Methodology: FISH

Clinical Significance:

Organ: Blood/Bone Marrow, Body Fluids, Lymph Node / Spleen

Disease State: Chronic Lymphocytic Leukemia / Small Lymphocytic Lymphoma (CLL/SLL), Plasma Cell Myeloma/Neoplasm

CPT Code(s): 88374 (reference only; CPTs may vary)

Turnaround Time: Within 3-4 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Peripheral blood, Preferred: 3 ml in sodium heparin (green top) / Acceptable: 3 ml in EDTA (purple top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in sodium heparin (green top) / Acceptable: 1-2 ml in EDTA (purple top) - OR -
• Fresh tissue in RPMI

Tech Only

11q22.3 (ATM) pin

FISH

Alternate Test Names:
CLL/SLL Panel test

Methodology: FISH

Clinical Significance:

Organ: Blood/Bone Marrow, Body Fluids, Lymph Node / Spleen

Disease State: Acute Myeloid Leukemia (AML) / Myeloid Sarcoma, Anaplastic Large Cell Lymphoma (Systemic or Cutaneous), Chronic Lymphocytic Leukemia / Small Lymphocytic Lymphoma (CLL/SLL)

CPT Code(s): 88374 (reference only; CPTs may vary)

Turnaround Time: Within 3-4 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Peripheral blood, Preferred: 3 ml in sodium heparin (green top) / Acceptable: 3 ml in EDTA (purple top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in sodium heparin (green top) / Acceptable: 1-2 ml in EDTA (purple top) - OR -
• Fresh tissue in RPMI

Tech Only

CD103 & PAX-5 pin

IHC

CD103 & PAX-5

Methodology: IHC

Clinical Significance:
CD103, or integrin αE, is preferentially expressed in human intestinal intraepithelial lymphocytes (IELs) and in specific types of lymphoid tumors. The main areas of diagnostic interest are the identification of hairy cell leukemia (HCL, almost always CD103+), and the distinction from marginal zone lymphomas and other potential HCL mimics (usually, but not always, CD103-negative). One other potential use of this antibody is the identification of intraepithelial gastrointestinal T cells (usually CD103+) and enteropathy-associated T cell lymphoma (EATL), a malignancy derived from these T cells, often in the setting of underlying celiac disease.

Due to the the fact that CD103 is not a lineage-specific antigen, PhenoPath's policy is to run the B cell marker PAX-5 in conjunction with all CD103 test orders. Ref: AJCP 139:220-230, 2013

Subcellular Localization: Cytoplasmic and membranous with membranous accentuation

Organ: Blood/Bone Marrow, Colon & Other GI, Lymph Node / Spleen

Disease State: Hairy Cell Leukemia, Marginal Zone/MALT Lymphoma, T Cell Non-Hodgkin Lymphoma (not otherwise classified)

CPT Code(s): 88342 and 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• Minimum of 4 unstained slides cut at 4µm

Tech Only

TCR-beta gene rearrangement pin

PCR

TCR-beta gene rearrangement

Methodology: PCR

Clinical Significance:
This PCR-based assay evaluates T cell clonality as part of the diagnostic work-up of specimens containing atypical T cell populations. It can be used in conjunction with TCR-gamma PCR studies in order to increase the likelihood of identifying such populations in reactive as well as neoplastic T cell proliferations. TCR-β clonal rearrangements can be identified in both mature and immature T cell lymphomas and leukemias and can aid in the diagnosis of such neoplasms in conjunction with other diagnostic modalities such as histology, immunohistochemistry and flow cytometry.

Organ: Blood/Bone Marrow, Lymph Node / Spleen, Skin & Mucosa, Thymus (Mediastinal Mass)

Disease State: Anaplastic Large Cell Lymphoma (Systemic or Cutaneous), Angioimmunoblastic T Cell Lymphoma, NK/T Cell Lymphoma, Nasal Type, Precursor T-Lymphoblastic Lymphoma/Leukemia (T-ALL), T Cell Non-Hodgkin Lymphoma (not otherwise classified)

CPT Code(s): 81340; 88381 may apply; G0452 may apply (reference only; CPTs may vary)

Turnaround Time: Within 3-5 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Peripheral blood, Preferred: 5 ml in EDTA (purple top) / Acceptable: 5 ml in sodium heparin (green top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in EDTA (purple top) / Acceptable: 1-2 ml in sodium heparin (green top) - OR -
• Fresh tissue in RPMI - OR -
• Formalin-fixed, paraffin-embedded tissue (FFPE)

Hepatitis B surface antigen pin

IHC

Hepatitis B surface antigen

Alternate Test Names:
Hep B Surface

Methodology: IHC

Clinical Significance:
Identifies: Hepatitis B infected cells in the liver and other sites.

Subcellular Localization: Cytoplasm

Organ:

Disease State:

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

1q21+1p21 pin

FISH

1q21+1p21

Alternate Test Names:
Myeloma Panel Test

Methodology: FISH

Clinical Significance:

Organ: Blood/Bone Marrow, Body Fluids

Disease State: Plasma Cell Myeloma/Neoplasm

CPT Code(s): 88374 (reference only; CPTs may vary)

Turnaround Time: Within 3-4 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Peripheral blood, Preferred: 3 ml in sodium heparin (green top) / Acceptable: 3 ml in EDTA (purple top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in sodium heparin (green top) / Acceptable: 1-2 ml in EDTA (purple top) - OR -
• Fresh tissue in RPMI

Tech Only

CD19 pin

IHC

CD19

Methodology: IHC

Clinical Significance:
CD19, like the CD79 complex and cytoplasmic CD22, is a pan-B-lineage antigen that is first expressed in very early B-lymphoid progenitors, and continues to be expressed at variable levels through terminal B-lymphoid differentiation in plasma cells. With the exception of true plasma cell neoplasms and classical Hodgkin lymphoma, the great majority of mature and immature B-lymphoid neoplasms express CD19. Some neoplasms such as hairy cell leukemia overexpress CD19, while others such as follicular lymphoma typically underexpress CD19. Rare non-B-lymphoid neoplasms express CD19, most notably acute myeloid leukemia (AML) bearing the t(8;21).

Subcellular Localization: Mainly membranous; partially cytoplasmic

Organ: Blood/Bone Marrow, Lymph Node / Spleen

Disease State: B Cell NHL with Plasmacytoid Differentiation, B Cell Non-Hodgkin Lymphoma (not otherwise classified), Burkitt's Lymphoma, Chronic Lymphocytic Leukemia / Small Lymphocytic Lymphoma (CLL/SLL), Diffuse Large B Cell Lymphoma, Follicular Lymphoma, Hairy Cell Leukemia, HIV-Associated Lymphoma, Lymphoplasmacytic Lymphoma, Mantle Cell Lymphoma, Marginal Zone/MALT Lymphoma, Nodular Lymphocyte-Predominant Hodgkin Lymphoma, Plasma Cell Myeloma/Neoplasm, Precursor B-Lymphoblastic Lymphoma/Leukemia (B-ALL)

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

Breast Multiplex (CK5/14 + P63 + CK7/18), IHC pin

IHC

Breast Multiplex (CK5/14 + P63 + CK7/18), IHC

Methodology: IHC

Clinical Significance:
The IHC Breast Multiplex assay is intended for the qualitative identification of Keratin 5/14, p63 protein and Keratin 7/18 by two color immunohistochemistry (IHC). This multiplex assay has two diagnostic applications:

1. Invasive carcinoma versus non-invasive lesions: The presence of myoepithelial cells around suspicious cells nests argues against a diagnosis of invasive carcinoma and can aid in identifying a non-invasive entity, such as carcinoma in situ, atypical ductal hyperplasia (ADH), usual ductal hyperplasia (UDH), and sclerosing adenosis.

2. Usual ductal hyperplasia versus atypical ductal hyperplasia and carcinoma in situ: The presence of staining for Keratin 5 among the luminal cells of a hyperplastic breast lesion can aid in distinguishing usual ductal hyperplasia (typically positive for Keratin 5) from atypical ductal hyperplasia/carcinoma in situ (typically negative for Keratin 5).

Organ: Breast

Disease State: Adenocarcinoma, Breast Cancer

CPT Code(s): 88344 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

Prostate Multiplex (CK5/14 + P63 + P504S), IHC pin

IHC

Prostate Multiplex (CK5/14 + P63 + P504S), IHC

Alternate Test Names:
Multiplex

Methodology: IHC

Clinical Significance:
The IHC Prostate Multiplex assay is intended for the qualitative identification of Keratin 5/14, p63 protein and P504S by two-color immunohistochemistry (IHC).

Keratin 5 and Keratin 14 are expressed in the basal cells of normal prostate glands and prostatic intraepithelial neoplasia (PIN), a precursor lesion to prostatic adenocarcinoma; however, expression of Keratin 5 or Keratin 14 is not seen in invasive prostatic adenocarcinoma. p63 is detected in nuclei of the basal epithelium in normal prostate glands and prostatic intraepithelial neoplasia (PIN), and is not seen in the vast majority of adenocarcinomas of the prostate.

Alpha-Methyl Acyl-CoA-Racemase (AMACR or Racemase) is the gene product of P504S, a peroxisomal and mitochondrial enzyme that plays a role in bile acid synthesis and oxidation of branched chain fatty acids. By immunohistochemistry, AMACR/P504S is very frequently expressed in prostatic adenocarcinoma. Prostate glands involved in prostatic intraepithelial neoplasia (PIN) have also been found to express AMACR/P504S, whereas in most cases, AMACR/P504S is negative in benign glands.

Together, the presence of Racemase expression in atypical glands, and the absence of basal cells (negative staining for p63, Keratins 5 and 14) can aid in the diagnosis of prostatic adenocarcinoma.

Organ: Genitourinary, Prostate

Disease State: Adenocarcinoma

CPT Code(s): 88344 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

SF-1 pin

IHC

SF-1

Alternate Test Names:
SF1

Methodology: IHC

Clinical Significance:
Nuclear localization of SF-1 can be used to distinguish sex cord-stromal tumors (SCST) from non-sex cord-stromal tumors (e.g., borderline tumors, serous carcinomas, etc.) and is therefore useful in the differential diagnosis of these neoplasms. Antibodies to SF-1 should be run in a panel with other sex cord-stromal tumor markers, such as inhibin and calretinin.

Subcellular localization: Nuclear

Organ: Genitourinary, OB/GYN, Ovary, Pituitary, Testis

Disease State:

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

Granzyme B pin

IHC

Granzyme B

Methodology: IHC

Clinical Significance:
Granzyme B is a useful biomarker for cytotoxic T-lymphocytes and natural killer cells, and may aid in differentiating between tumors arising from these cell types and tumors arising from other hematolymphoid cell types.

Granzyme B is a serine protease that is the main component in granule-mediated targeted cell lysis. Cytotoxic T-lymphocytes (CTL) and Natural-Killer (NK) cells store granzyme B-containing granules in their cytoplasm and release them during CTL-mediated targeted cell lysis (the ‘cell-mediated’ component of the immune response). After release from the CTL, granzyme B binds its receptor on the target cell, is endocytosed, and remains in the endocytic vesicle until released by perforin. Once released into the target cell cytoplasm, granzyme B can affect cell death via two pathways: 1) initiating a caspase cascade that leads to rapid DNA fragmentation of the target cell (apoptosis) or 2) mediating the release of cytochrome c from the mitochondria, which leads to cell death via necrosis.

Organ: Blood/Bone Marrow, Lymph Node / Spleen, Skin & Mucosa, Soft Tissue

Disease State: Anaplastic Large Cell Lymphoma (Systemic or Cutaneous), NK/T Cell Lymphoma, Nasal Type, Peripheral T Cell Lymphoma, NOS (of Large Cell Type), T Cell Non-Hodgkin Lymphoma (not otherwise classified)

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

CD200 pin

IHC

CD200

Methodology: IHC

Clinical Significance:
CD200, a cell surface antigen expressed in a variety of benign and neoplastic tissues, is thought to promote immune evasion by tumors. CD200 evaluation can help distinguish chronic lymphocytic leukemia / small lymphocytic lymphoma (CLL/SLL, usually CD200-positive) from mantle cell lymphoma (almost always CD200-negative).

Subcellular Localization: Membranous and cytoplasmic

Organ: Blood/Bone Marrow, Lymph Node / Spleen

Disease State: Angioimmunoblastic T Cell Lymphoma, Chronic Lymphocytic Leukemia / Small Lymphocytic Lymphoma (CLL/SLL), Plasma Cell Myeloma/Neoplasm

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

Myeloproliferative Neoplasm (MPN) FISH Panel pin

FISH

Myeloproliferative Neoplasm (MPN) FISH Panel

Panel Components:
Alternate name: MPD FISH Panel
13q14.3_D13S319
Deletion 20q
CEP8 (trisomy)
Copy Control 9 (CC9) (hyperdiploidy)
* Panel makeup subject to change

Methodology: FISH

Clinical Significance:
Myeloproliferative disorders are a heterogeneous group of conditions that involve the abnormal growth of blood cells in the bone marrow. Included in this group are polycythemia vera, essential thrombocytosis, and primary (or idiopathic) myelofibrosis, also known as myelosclerosis. The prognosis for these diseases largely depends on the type of disorder; several FISH tests can be used prognostically and in conjunction with cytogenetic studies to monitor treatment progress.

Organ: Blood/Bone Marrow

Disease State: Myeloproliferative Neoplasms, Including Chronic Myelogenous Leukemia (CML)

CPT Code(s): 88374, 88367; 88373x2 (reference only; CPTs may vary)

Turnaround Time: Within 3-4 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Peripheral blood, Preferred: 3 ml in sodium heparin (green top) / Acceptable: 3 ml in EDTA (purple top) - OR -
• Bone marrow aspirate, Preferred: 1-2 ml in sodium heparin (green top) / Acceptable: 1-2 ml in EDTA (purple top) - OR -
• Fresh tissue in RPMI

SOX11 pin

IHC

SOX11

Alternate Test Names:
MRQ-58, Sox-11, SOX-11

Methodology: IHC

Clinical Significance:
SOX11 is a transcription factor expressed in almost all cases of mantle cell lymphoma (MCL), including the rare entity cyclin D1-negative MCL. It is not expressed in potential MCL mimics such as atypical chronic lymphocytic leukemia / small lymphocytic lymphoma (CLL/SLL), follicular lymphoma, and marginal zone lymphoma (Soldini D, et al. Am J Surg Path 38:86-93, 2014).

Subcellular Localization: Nuclear

Organ: Blood/Bone Marrow, Lymph Node / Spleen

Disease State: Mantle Cell Lymphoma

CPT Code(s): 88342 or 88341 (reference only; CPTs may vary)

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

Tech Only

Cytokeratins (AE1/AE3) pin

IHC

Methodology: IHC

Clinical Significance:
Please see Keratins (AE1/AE3)

Organ:

Disease State:

CPT Code(s):

Turnaround Time:

Schedule:

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Cytokeratins, high molecular weight (34βE12) pin

IHC

Alternate Test Names:
34BE12

Methodology: IHC

Clinical Significance:
Please see Keratins, high molecular weight (34βE12)

Organ:

Disease State:

CPT Code(s):

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Schedule:

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Cytokeratins (OSCAR) pin

IHC

Methodology: IHC

Clinical Significance:
Please see Keratins (OSCAR)

Organ:

Disease State:

CPT Code(s):

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Schedule:

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Cytokeratin 8, low molecular weight (35βH11) pin

IHC

Methodology: IHC

Clinical Significance:
Please see Keratin 8, low molecular weight (35βH11)

Organ:

Disease State:

CPT Code(s):

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Schedule:

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Cytokeratin 5 pin

IHC

Methodology: IHC

Clinical Significance:
Please see Keratin 5

Organ:

Disease State:

CPT Code(s):

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Schedule:

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Cytokeratin 7 pin

IHC

Methodology: IHC

Clinical Significance:
Please see Keratin 7

Organ:

Disease State:

CPT Code(s):

Turnaround Time:

Schedule:

Specimen Requirements: