Hematologic Diseases

Detects ABL1 kinase domain mutations in patients with BCR-ABL1-positive chronic myelogenous leukemia (CML) or acute lymphoblastic leukemia (ALL). RNA is isolated, reverse transcribed to complementary DNA (cDNA), and the DNA sequence of targeted regions of ABL (exons 4, 6-7) is determined using next-generation sequencing (NGS) technology. Analysis includes detection of the common T315I mutation.

disease state indication(s)
Chronic myelogenous leukemia (CML), acute lymphoblastic leukemia (ALL)

clinical use
BCR-ABL1 kinase domain point mutations are found in approximately 50% of chronic myelogeneous leukemia (CML) patients with treatment failure and progression. Mutation analysis can be helpful in the selection of subsequent tyrosine kinase inhibitor (TKI) therapy for patients with inadequate initial response to first-line or second-line TKI therapy.

methodology/product platform
Amplicon-based next-generation sequencing (NGS)

specimen type and requirements
Peripheral blood: 2-3 mL in EDTA (purple-top) tube.
Bone marrow: 2-3 mL in EDTA (purple-top) tube.
Note: Use refrigerated cold pack for transport. Make sure cold pack is not in direct contact with specimen.
DO NOT FREEZE.

turnaround time
Global: 10-12 days

cpt code(s)
81170 (x1)

medicare moldx cpt code
81450 (x1)

regulatory classification
Laboratory developed test (LDT)

ordering option
Global