Misys Code: MD

CoPath Code: BCRCMLQT

Synonyms: Philadelphia Chromosome, CML by Molecular Detection; Real-Time RTPCR, p210

Associated Links: Genetic Testing Consent Form

Compliance: 

Availability: Specimens received after 1400 Friday through Sunday will not be processed until Monday. See Cause for Rejection.

Turnaround Time: Results are reported in 7-10 days.

Special Instructions: A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors.

Test Performed At: Molecular Diagnostics (UMMC-University)

Methodology: Real-time PCR

CPT Code: 83902 Quant RT, 83902 RT Addl, 83898 Quant Amp, 83898 Amp Addl, 83896 Qant Probe, 83896 Probe Addl, 83912 Quant Interp, 83912-26 Interpretation, 83891 RNA Isolation

Date Modified: 8/5/2009 11:35:56 AM

Collection

Specimen: Blood or bone marrow

Collection Volume: 10 mL blood; 5 mL bone marrow

Minimum Collection Volume: 5 mL blood, 2 mL bone marrow

Container: Yellow (ACD, Solution A) tube available from laboratory. Alternate: Purple (EDTA).

Causes for Rejection: Specimen received more than 3 days from date of collection, incorrect volume or tube type, clotted or frozen specimens.

Processing and Shipping

Specimen Processing: Store in refrigerator.

Shipping Instructions: Ship at refrigerated temperature. Specimen should arrive by 14:00 Friday.

Interpretive

Use: Chromosomal translocation (9;22) leads to a fusion gene BCR-ABL1. The fusion gene is a signature feature of the Chronic Myeloproliferative disorder (CML). During and after treatment, patients with CML can be monitored for presence or absence of BCR-ABL1 fusion transcripts using RT-PCR. Regular RT-PCR can detect the fusion gene transcripts, but is not appropriate for detection of tumor load and is not accurate for detection of minimal residual disease after treatment. Quantitative RT-PCR can provide important information to monitor the tumor load, status of remission, the minimal residual disease, and chronological expression level of the fusion transcripts. The molecular lab is offering the Real Time quantitative PCR (qRT-PCR) assay for BCR-ABL1 fusion transcripts, p210 (major breakpoint of BCR-ABL1), for CML only. This test does not include BCR/ABL1 fusion transcripts, p190 (minor breakpoint of BCR-ABL1), for ALL. Follow-up testing for BCR-ABL1 CML should be done on same specimen type, preferably blood. Bone marrow samples will be accepted, but comparisons between blood and bone marrow may not be appropriate.