BCR-ABL - gene - qualitative

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Eurofins Biomnis code

BCR

Specialty

Genetics


Clinical significance

Chronic Myeloid Leukaemia (CML) is classified by the WHO as a Myeloproliferative Neoplasia (MPN). The associated diagnostic cytogenetic abnormality is the translocation t(9;22)(q34;q11) or Philadelphia chromosome. The molecular equivalent is the BCR-ABL fusion transcript. The molecular biology test (RT-PCR and multiplex PCR) offered at the Eurofins Biomnis laboratory allows the detection of all BCR-ABL fusion transcripts: M, m, µ and nano BCR-ABL. This is a QUALITATIVE assay for the BCR-ABL transcript. This analysis can be completed by a QUANTITATIVE BCR-ABL assay, in particular for the follow-up of CML under ITK (BCRQ assay - information available on the analysis reference). We also offer cytogenetic analysis in the laboratory: haematological karyotype (MOHC1) and haematological BCR-ABL FISH (MOHC2). In the context of acute leukaemia (ALL and AML), the screening for the BCR-ABL fusion transcript can also be performed with this technique.

Preanalytics
  • Whole blood on PAX gene tube : frozen 1 x 4 ml EDTA whole blood : ambient
  • A tube specifically for this analysis : Yes
Further information

Use the specific request form B8-INTGB: Malignant blood disorders
4 days stability

Specific equipment available
  • K10 : PAXgene tube

Methodology

One-step real-time RT-PCR. Detection of 18 BCR fusion transcripts:: ABL (e1a2, e1a3, e4a2, e4a3, e6a2, e6a3, e8a2, e8a3, e13a2 (b2a2), e13a3 (b2a3), e14a2 (b3a2), e14a3 (b3a3), e16a2, e16a3, e18a2, e18a3, e19a2, e19a3) without discrimination. Detection of BCR::ABL fusion transcripts e1a2, e13a2 (b2a2), e14a2 (b3a2), e1a3, e13a3 (b2a3), e14a3 (b3a3), e19a2, e19a3 with discrimination. For rare transcripts, verification by Sanger sequencing.

Turnaround time

18 days


Testing Laboratory

Biomnis Lyon