ABL Kinase Domain Mutation : 16029

Ship specimen immediately due to short specimen stability of 72 hours.

BCRNGS or 16029

Whole blood or bone marrow in lavender (EDTA) or green (no gel) (sodium heparin) tube.  Also yellow (ACD Solution B) tube for whole blood.

Transport 5 mL whole blood  (Min: 3 mL) OR Transport 3 mL bone marrow. (Min: 1 mL).

Refrigerated.

Room temperature: 72 hours; Refrigerated: 72 hours; Frozen: Unacceptable

Gross hemolysis, Lipemia, Frozen samples, Clotted whole blood samples, Clotted bone marrow samples.

Sunday & Wednesday

3-7 days (From receipt at performing laboratory)

This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Not Detected

ABL Kinase Domain Mutation in CML – Kinase inhibitors such as IMATINIB mesylate (ST1571;GLEEVEC) are effective in the treatment of chronic Myelogenous Leukemia (CML) by selectively inhibiting BCR-ABL fusion protein. Most patients in chronic phase maintain durable responses; however, many in blast crisis fail to respond, or relapse quickly. ABL kinase domain mutations are the most identified mechanism associated with relapse. The molecular monitoring in the first few months of therapy may play a crucial role in detecting patients at high risk of resistance to therapy. The ABL kinase mutation assay sequences exons 4-9 of ABL1 kinase and will detect all drug-resistance mutations as recommended by guidelines including G250E, Y253H, E255K/V, V299L, F311L/V/I, T315I/A, F317L/V/I/C, A337T, F359V/I/C and P465S, which will aid in the selection of the appropriate kinase inhibitor therapies.