Methodology: FISH

Clinical Significance:
This FISH test detects deletion of 20q12, which is a chromosomal abnormality seen in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This FISH test is frequently utilized in the workup of MDS, which is a heterogeneous group of clonal myeloid stem cell disorders. Deletion of 20q12 as a sole abnormality is associated with a favorable prognosis. When seen with other chromosomal abnormalities, deletion 20q12 is associated with a poor prognosis. Probe type: Single Color Enumeration

Organ: Blood/Bone Marrow

Disease State: Acute Myeloid Leukemia (AML) / Myeloid Sarcoma

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

Turnaround Time: Within 4-6 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