BCR-ABL Quantitative with P210 Breakpoint Test Cost & Procedure

BCR-ABL1 is a gene sequence that has been linked to some individuals with specific types of leukaemia who have an abnormal chromosome 22. Unlike most cancers, chronic myelogenous leukaemia (CML) and some other leukaemias have a single, well-defined genetic abnormality in one chromosome that can be the cause of these diseases. B-lymphoblastic leukemia/lymphoma, specifically CML, and a form of acute lymphoblastic lymphoma (ALL), are both confirmed by the presence of the gene sequence known as BCR-ABL1. Rarely, acute myeloid leukaemia and T-lymphoblastic leukemia/lymphoma cases are linked to the abnormal chromosome.

Inherent genetic material is located on 23 pairs of chromosomes in humans. The DNA found in those genes serves as the blueprint for creating the proteins essential to the proper operation of our bodies.

While some genetic disorders are inherited, others may result from alterations to genes or chromosomes that take place after a person is born. This can occur as a result of exposure to numerous environmental variables (such as radiation or specific chemicals), but it occurs more frequently for unexplained causes.

The BCR-ABL mutation is caused when bits of the BCR and ABL genes separate and swap positions. The ABL gene is a portion of the chromosome 9 fragment that separates. Part of the ABL gene joins the BCR gene as it translocates to chromosome 22. The BCR-ABL fusion gene is the name of the combined gene. The Philadelphia chromosome is named after the city where researchers initially found the altered chromosome 22, which houses the BCR-ABL gene. It is not possible to inherit the BCR-ABL gene mutation from your parents. Because it is a somatic mutation, you are not born with it. It comes later in life.

For use in diagnosis and continuous therapy monitoring, this assay quantitates BCR-ABL1 transcripts (e13a2 and e14a2). Majority cases of chronic myelogenous leukaemia and a few cases of acute lymphoblastic leukaemia have BCR-ABL1 translocations with BCR breakpoints in the major breakpoint cluster region, which produce the p210 fusion protein. The primers are made to identify the primary BCR-ABL1 breakpoint (p210), as well as fusions between the BCR exon 13 and the ABL1 exon 2 (e13a2),

Real-time PCR amplification is used to quantify BCR-ABL1 fusions after total RNA has been extracted and converted to cDNA. The primers are intended to identify fusions between BCR exon 13 and ABL1 exon 2 (e13a2) and BCR exon 14 and ABL1 exon 2 as well as the major (p210) BCR-ABL1 breakpoint (e14a2). A standard curve for BCR-ABL1 and the ABL1 control is included in each PCR experiment. A normalised copy number (NCN) is derived from this (#BCR-ABL1 cDNA molecules/#ABL1 cDNA molecules) and provided for each sample.