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This breakapart FISH assay detects rearrangements involving the RARA gene. Translocations involving the RARA gene are present in acute promyelocytic leukemia (APL), which is a distinct form of acute leukemia (AML-M3) that accounts for 10% of cases and is characterized by promyelocytes, thrombocytopenia, disseminated intravascular coagulation (DIC), and sensitivity to all-trans-retinoic acid (ATRA). The most common translocation partner for RARA in APL is the PML gene resulting in the t(15;17)(q22;q12). The RARA breakapart FISH probe also detects the three variant translocations involving the RARA gene in APL which include: 1) t(11;17)(q23;q21) involving the promyelocytic leukemia zinc finger gene (PLZF) on 11q23, 2) t(5;17)(q23;q21) involving the nucleophosmin (NPM) on 5q23, and 3) t(11;17)(q23;q21) involving the nuclear matrix associated gene (NUMA) on 11q13. Acute promyelocytic leukemias involving the variant t(11;17)(q23;q21) have been reported to be resistant to ATRA whereas those with variant t(5;17)(q23;q21) appear to respond to ATRA. Probe type: Dual color breakapart
Organ: Blood/Bone Marrow
Disease State: Acute Myeloid Leukemia (AML) / Myeloid Sarcoma
CPT Code(s): 88374. The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Turnaround Time: Within 4-6 business days of receipt
Schedule: Monday - Friday
• 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)