Methodology: FISH

Clinical Significance:
FISH studies for inv(16) / t(16;16)(p13;q22) are clinically indicated in new diagnoses of acute myeloid leukemia (AML) for proper diagnostic classification, as the inv16/t(16;16) is a recurrent chromosomal abnormality in AML. FISH testing for this abnormality may also be indicated for follow-up studies to monitor disease progression and response to therapy. Translocations/inversions of chromosome 16 are found in about 10% of AML, with approximately half of these cases being AML M4 subtype with abnormal eosinophilia. The CBFB-MYH11 fusion gene is formed due to a pericentric inversion on chromosome 16, inv(16)(p13q22), or in rare instances, is due to a translocation: t(16;16)(p13;q22). Probe type: Dual color breakapart

Organ: Blood/Bone Marrow

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

CPT Code(s): 88374 (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