MDS (Myelodysplastic Syndrome) Panel pin

FISH

Panel Components:
EGR1 (5q31/5p15.5)
7/del 7q
CEP8
Deletion 20q
* Panel makeup subject to change

Methodology: FISH

Clinical Significance:
MDS represents a heterogeneous group of clonal myeloid stem cell disorders which are characterized not only by specific histologic changes typically seen in the bone marrow and peripheral blood, but also by specific chromosome abnormalities. The MDS FISH Panel offered at PhenoPath covers the most common MDS-associated chromosomal abnormalities and specifically detects the following: EGR1/5q31 deletion (5q-), monosomy 5, deletion 7q31, monosomy 7, deletion 20q12, and trisomy 8. The different chromosomal abnormalities have prognostic significance and generally can be divided into three prognostic groups: favorable, intermediate, and poor. Tumors manifesting deletion of 5q31, 20q12, and lacking any other genetic abnormalities constitute the favorable group; furthermore, patients with tumors manifesting 5q loss are eligible for Revlimid® (lenalidomide) therapy. Tumors with trisomy 8 and deletion 7q31 constitute the intermediate prognosis group and those with monosomy 5 or 7 represent the poor prognostic group.

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

Disease State: Acute Myeloid Leukemia (AML) / Myeloid Sarcoma, Myelodysplastic Syndromes, Myeloproliferative Neoplasms, Including Chronic Myelogenous Leukemia (CML)

CPT Code(s): 88374x2, 88367; 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

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