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BCR/ABL - Philadelphia Chromosome - Qualitative (Breakpoint Analysis) – PCR

BCR/ABL - Philadelphia Chromosome - Qualitative (Breakpoint Analysis) – PCR

The BCR/ABL - Philadelphia Chromosome - Qualitative (Breakpoint Analysis) - PCR is a pivotal diagnostic test used in the detection of Chronic Myeloid Leukemia (CML) and some forms of Acute Lymphoblastic Leukemia (ALL). This test aims to identify the presence of the BCR-ABL fusion gene, an aberration produced by a specific chromosomal rearrangement known as the Philadelphia chromosome.

  • Test Name BCR/ABL - Philadelphia Chromosome - Qualitative (Breakpoint Analysis) – PCR
  • Sample Type Blood or Bone Marrow
  • Preparations Required No special instructions are required before the test.
  • Report Time 4 days

CML is a type of blood cancer that arises from the bone marrow and results in an abnormal proliferation of white blood cells. The hallmark of CML is the presence of the Philadelphia chromosome, a genetic mutation that culminates in the creation of the BCR-ABL fusion gene. This hybrid gene is significant because it encodes a protein with heightened tyrosine kinase activity, leading to unrestrained cell division and the consequent symptoms of CML. Recognizing the presence of this gene is fundamental to the diagnosis and treatment of CML

The test employs Polymerase Chain Reaction (PCR), a technique used to amplify targeted segments of DNA, allowing for the detection and analysis of specific genetic sequences. In this case, the focus is on the BCR-ABL fusion gene. The "qualitative" aspect of the test refers to its ability to determine the presence or absence of the gene, but not the quantity.

This test not only helps confirm the diagnosis of CML but can also be instrumental in diagnosing some forms of ALL. Moreover, it provides valuable information about the specific type of BCR-ABL fusion gene present, contributing to a more personalized treatment approach.

Home Sample Collection Process

1
Book your convenient slot
Book your convenient slot
2
Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
3
Reporting of the sample at lab
Reporting of the sample at lab
4
Download Reports
Download Reports
Frequently Asked Questions

This test is typically ordered when a healthcare provider suspects a diagnosis of CML or certain types of ALL based on symptoms, blood counts, and other laboratory findings.

The test involves the extraction of a sample of blood or bone marrow from the patient. The sample is then analyzed in the lab using PCR to detect the presence of the BCR-ABL fusion gene.

A positive result indicates the presence of the BCR-ABL fusion gene, supporting a diagnosis of CML or certain types of ALL. A negative result suggests that the gene is not present.

Breakpoint analysis refers to the identification of the specific location where the genetic recombination event has occurred. This can provide important information about the specific type of BCR-ABL fusion gene present, which can have implications for treatment.

The risks associated with the test are minimal and are mainly related to the blood or bone marrow collection process. These might include temporary pain or discomfort at the injection site or, rarely, infection.

A positive test result suggests the presence of the BCR-ABL fusion gene, supporting a diagnosis of CML or certain forms of ALL. Your doctor will discuss the results with you and determine the most appropriate course of treatment.

No special preparation is required before this test.

The frequency of this test depends on the individual's condition and the healthcare provider's judgment. In general, it may be performed at diagnosis and could be repeated at intervals to monitor the progress of the disease or response to treatment.

No, this test requires specialized equipment and trained professionals to perform. It cannot be done at home.

If your test results are abnormal, you should consult a hematologist or an oncologist.

The BCR/ABL - Philadelphia Chromosome - Qualitative (Breakpoint Analysis) - PCR is a crucial tool in diagnosing and managing CML and some forms of ALL. The test identifies the presence of the BCR-ABL fusion gene, thereby confirming the diagnosis and helping determine the appropriate treatment approach. Understanding your test results and their implications is key to managing your health effectively. Your healthcare provider is your best source of information and guidance in this regard.

BCR/ABL - Philadelphia Chromosome - Qualitative (Breakpoint Analysis) - PCR
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