Philadelphia Chromosome BCR/ABL1 Translocation, FISH or PCR


Philadelphia chromosome is a reciprocal translocation of the long arms of chromosomes 9 and 22t (9;22). This translocation uses sequences of the BCR gene on chromosome 22 with regions of he ABL1 on chromosome 9.


Philadelphia chromosome is found in 90-95% of patients with chronic myelogenous leukaemia (CML) at diagnosis. The remainig cases have either variant translocations or a cryptic translocation that cannot be identifies by routine cytogenetic analysis. In such cases , the BCR/ABL1 fusion gene is present and can be detected by FISH analysis and /or RT-PC.The fused BCR/ ABL1 gene provides specific markers for diagnosis and disease monitoring. Fluorescent in situ hybridisation (FISH) techniques rely on chromosome-specific and gene-specific DNA probes to identify numeric and structural chromosomal abnormalities.

Sample Type, Quantity & Conditions

3 ml EDTA Whole Blood (PCR) 5 ml Heparinised Whole Blood (FISH) Room Temperature

Special Precautions

Full patient history required. Collect in EDTA vacutainer tube. Avoid contamination with DNA of phlebotomist and send tube unopened Avoid haemolysed samples. Do not freeze samples.

Normal Range

By Report

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