BCR-ABL Kinase Domain Mutation Analysis Test Cost & Procedure

A genetic mutation (change) on a particular chromosome is what a BCR-ABL test searches for. Your cells' chromosomes are the components that house your genes. Your mother and father pass down genes, which are pieces of DNA. Your distinctive characteristics, such height and eye colour, are contained in the data they carry. The average human cell contains 23 pairs of the 46 chromosomes that make up their genome. Your mother contributes one set of each pair of chromosomes, and your father contributes the other set. Two genes, BCR and ABL, come together to create the mutation known as BCR-ABL. A fusion gene is another name for it. Normally, the BCR gene is located on chromosome 22. On chromosome 9, the ABL gene is typically located. In the BCR-ABL.

BCR-ABL

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.

One of the most frequent causes of resistance to tyrosine kinase inhibitors (TKI) in people with chronic myelogenous leukaemia (CML) is mutations in the BCR-ABL1 kinase domain (BCR-ABL1 KD) [1]. 40–50% of all TKI-resistant cases are a result of the appearance of BCR-ABL1 kinase domain (KD) mutations [2]. Sanger sequencing (SS), with an analytical sensitivity limit of 10-20%, is the currently preferred technique for finding BCR-ABL1 KD mutations [3]. Several mutant clones (polyclonal mutations) and compound mutations cannot be consistently distinguished by SS [4]. Because of its improved sensitivity in identifying mutations at variable allele frequencies (VAFs) as low as 1-3%, next-generation sequencing (NGS) is being advocated as the preferred approach for discovering BCR-ABL1 KD alterations.