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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 (reference only; CPTs may vary)
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)