ABL1 Kinase Domain Mutation Analysis

Diagnostic Use

This test is used to detect resistance variants in the ABL1 kinase domain of CML/ALL patients (BCR::ABL1 at diagnosis) who have a lack/loss of response to tryosine kinase inhibitor (TKI) therapy, a rising BCR::ABL1 transcript level or loss of major molecular response (>0.1 % BCR::ABL1 to ABL1 control gene).

Department

Genetics - Molecular Oncology

Delphic Registration Code

MONC

Laboratory Handling

Phlebotomy

3x EDTA (Lavender) dedicated to Genetics

Registration

Send to MONC

Turnaround Time

14 days

Test Code

8265

Specimen Type

• Whole Blood
• Bone Marrow

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Acceptable

• RPMI (Bone Marrow)

Additional Specimen Information

12 ml peripheral blood in EDTA. 1-3 ml of bone marrow in EDTA or RPMI (anticoagulant).
Transport to the laboratory at ambient temperature within 48 hours of collection to ensure high-quality RNA can be extracted.

Aliquot Instructions

Interpretation

Clinically significant variants in the ABL1 kinase domain of the BCR::ABL1 transcript are reported.

Test Method

RNA extraction/storage and Sanger Sequencing of semi-nested PCR products containing the ABL1 kinase domain of the BCR::ABL1 transcript.
Variants with an allele frequency less than 20% may not be detected by this method.

Non-Funded Test Cost

$720.44 (Exclusive of GST)

Billing Code

8265

Additional Costing Information

An additional charge of approximately $200 may be applied to samples received on weekends and public holidays for extraction of RNA by on-call staff.

Contact Information

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