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Test Code BAKDM BCR/ABL1, Tyrosine Kinase Inhibitor Resistance, Kinase Domain Mutation Screen, Sanger Sequencing, Varies

Reporting Name

BCR/ABL1 Mutation, Sequencing

Useful For

Evaluating patients with chronic myelogenous leukemia and Philadelphia chromosome positive B-cell acute lymphoblastic leukemia receiving tyrosine kinase inhibitor (TKI) therapy, who are apparently failing treatment

 

Preferred initial test to identify the presence of acquired BCR-ABL1 mutations associated with TKI-resistance

Testing Algorithm

If BCR/ABL1 fusion type (p210, p190, p205 or p230) is not provided, BADX / BCR/ABL1, Qualitative, Diagnostic Assay, Varies will be performed at an additional charge.

 

In the event that no fusion form (p190, p205, p210, p230) is identified by qualitative testing, this test will be canceled.

 

For more information see BCR/ABL1 Ordering Guide for Blood and Bone Marrow.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Varies


Ordering Guidance


This is the preferred initial test to identify the presence of acquired BCR/ABL1 mutations associated with tyrosine kinase inhibitor (TKI)-resistance.



Shipping Instructions


1. Refrigerated specimens must arrive within 5 days of collection, and ambient specimens must arrive within 3 days (72 hours) of collection.

2. Draw and package specimen as close to shipping time as possible.



Necessary Information


The following information is required:

1. Patient's fusion type (p210, p190, p205 or p230)

2. Pertinent clinical history

3. Clinical or morphologic suspicion

4. Date of collection

5. Specimen source (blood or bone marrow)



Specimen Required


Submit only 1 of the following specimens:

 

Preferred:

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA)

Specimen Volume: 10 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

3. Label specimen as blood.

 

Acceptable:

Specimen Type: Bone marrow

Container/Tube: Lavender top (EDTA)

Specimen Volume: 4 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send bone marrow specimen in original tube. Do not aliquot.

3. Label specimen as bone marrow.


Specimen Minimum Volume

Blood: 8 mL
Bone Marrow: 2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Refrigerated (preferred) 5 days PURPLE OR PINK TOP/EDTA
  Ambient  72 hours PURPLE OR PINK TOP/EDTA

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Friday

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81170-ABL1 (ABL proto-ongogene 1, non-receptor tyrosine kinase)(eg, acquired imatinib tyrosine kinase inhibitor resistance), gene analysis, variants in the kinase domain

LOINC Code Information

Test ID Test Order Name Order LOINC Value
BAKDM BCR/ABL1 Mutation, Sequencing 55135-8

 

Result ID Test Result Name Result LOINC Value
MP004 Specimen Type 31208-2
MOFF BCRABL Fusion (210, 190, 205, 230) 55135-8
19824 Final Diagnosis: 34574-4

Report Available

5 to 7 days

Reject Due To

Gross hemolysis Reject
Other Moderately to severely clotted

Method Name

Reverse Transcription-Polymerase Chain Reaction (RT-PCR) with Sanger Sequencing

Secondary ID

89609

Forms

1. Hematopathology Patient Information (T676)

2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
BADX BCR/ABL1, RNA-Qual, Diagnostic Yes No