Test Overview
Test Methodology

Reverse transcription followed by nested Polymerase Chain Reaction (PCR).

Test Usage

Chronic myelogenous leukemia (CML) is characterized by the presence of the Philadelphia chromosome, the product of the t(9;22)(q34;q11) translocation. This translocation results in the BCR-ABL fusion protein with constitutive ABL tyrosine kinase activity. The kinase inhibitor imatinib (STI571, Gleevec) inhibits ABL kinase activity and is now the standard of care for early phase CML. Prolonged treatment with imatinib can lead to drug resistance, especially in patients with advanced disease. A large portion of resistant leukemias have acquired point mutations in the ABL kinase domain that renders the kinase resistant to the drug. This test detects greater than 85% of the reported ABL mutations (amino acid residues 235 through 368) that lead to imatinib resistance. The test may detect mutations prior to relapse.

Reference Range *

Interpretive report provided. If a PCR product is detected, sequencing analysis will be performed to detect ABL1 kinase domain mutations if present.

Test Limitations

This test detects greater than 85% of the reported ABL1 mutations (amino acid residues 235
through 368) that lead to imatinib resistance. The test may detect mutations prior to relapse. More than one clone may exist in resistant cells, with each subclonal component bearing a different mutation. ABL1 kinase domain sequencing may fail if the disease burden is too low (approximately 1 cell in 1,000 normal cells). Specimens older than 48-72 hours may result in failed testing due to RNA degradation.

Test Details
Analytic Time

3 - 10 days

Soft Order Code
KMBCR
MiChart Code
BCR/ABL1 Kinase Domain Mutation
Synonyms
  • MLABEL
  • KMBCR
  • BCR Kinase Muation Analysis
  • ABLAMP
  • ABL-1 KINASE MUTATION ANALYSIS
  • ABLAMPS
  • ABL1 Kinase Domain Mut'n Shad
  • BCRABL Kinase Domain Mutation Detection
  • ABL1 Kinase Domain Mutation Detection
  • BCRABL Mutation Analysis
  • ABL Mutation Analysis
  • CML Mutation Analysis
  • CML Mutational Sequencing Assay
Laboratory
Molecular Diagnostics
Section
Molecular Diagnostics
Specimen Requirements
Collection Instructions

Collect blood or bone marrow in a lavender top tube. Refrigerate and send intact blood or bone marrow specimen within 48 hours of collection. Fresh tissue (preferably 0.5cm3, sent in RPMI) and fresh aspirates or body fluids are acceptable. Refrigerate and send, preferably within 24 hours. Frozen tissue specimens – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fresh cell suspensions in RPMI should be refrigerated and sent, preferably within 48 hours. Frozen cell suspensions – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice.

Alternate Specimen
The preferred specimen is whole blood or bone marrow collected in EDTA (lavender top). However, ACD (yellow top) and heparin (green top) may also be accepted. Previously extracted RNA may also be accepted.
Normal Volume
5 mL EDTA (lavender) whole blood; 3 mL EDTA (lavender) bone marrow; Fresh/frozen tissue and fresh aspirates or body fluids; Fresh/frozen cells in RPMI. Extracted RNA is also acceptable if extracted in a CLIA certified laboratory.
Additional Information

By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes pathologist interpretation of results billed as a separate additional charge. This test is not available without interpretation.

Billing
CPT Code
81170
Fee Code
NA053 without sequencing; NA054 with sequencing
Pro Fee CPT
G0452-26
NY State Approved
No