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BCR-ABL1 refers to a gene sequence found in an abnormal chromosome 22 of some people with certain forms of leukemia. Testing is ordered to detect the Philadelphia (Ph) chromosome and BCR-ABL1 gene sequence. It is used to help diagnose CML and specific types of ALL and, rarely, acute myeloid leukemia (AML) in which the BCR-ABL1 gene sequence is present (BCR-ABL1-positive). It is also used to monitor response to treatment and to monitor for disease recurrence. At diagnosis, 90-95% of cases of CML are BCR-ABL1-positive. About one in four adults with ALL have the sequence.

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Several types of tests may be ordered to detect BCR-ABL1. These include chromosome analysis, the qualitative or quantitative BCR-ABL1 molecular genetic test, and/or fluorescence in situ hybridization (FISH). These help establish the initial diagnosis of CML or Ph-positive ALL. The quantitative test is also used to monitor how well someone responds to therapy.

Tests for BCR-ABL1 are often performed along with other tests if a health practitioner suspects that someone has leukemia and is trying to diagnose or rule out CML and Ph-positive ALL. The chromosomal analysis and FISH can also help to determine what percentage of the person's blood or bone marrow cells are affected.

The BCR-ABL1 can produce proteins of differing sizes and weights, depending on where the break in chromosome 22 occurred. In CML, the breakpoint in BCR is almost always in the major breakpoint cluster region (M-BCR), leading to the production of BCR-ABL1 protein of a larger size (the protein is called p210). Breaks in the minor breakpoint cluster region (m-BCR) leads to a shorter fusion protein (called p190), which is most frequently associated with Ph chromosome-positive ALL.

The quantitative BCR-ABL1 molecular test measures either of the breakpoints in the fusion gene. It is used to establish a baseline value and then to monitor the person's response to treatment and, if the person achieves remission, to monitor for recurrence. If treatment resistance or disease recurrence occurs, the BCR-ABL1 kinase domain mutation analysis should be performed to guide further treatment.

Fluorescence in-situ Hybridization (FISH) is a branch of cancer genetics that focuses on detecting and locating the presence or absence of specific DNA sequences on chromosomes. FISH is also referred to as Molecular Cytogenetics.

To perform FISH, cells are fixed onto the surface of a slide, and then the slide is treated so that the chromosomal DNA is denatured into single strands.

Then, special fluorescently labeled DNA probes are applied onto the slide. The DNA probes are small pieces of single stranded DNA with a sequence from the gene of interest. Probes are only able to hybridize with their complimentary sequence, which is the gene or locus of interest on a particular chromosome. The DNA probes are allowed to hybridize with the denatured chromosomal DNA, and any excess probes are washed away.

After the excess probes are washed away, the slide is then viewed under a fluorescence microscope. The fluorescently labeled molecules reveal the physical location of the gene or locus of interest. Pathologists will then use specified cut off values to assess the results of the FISH test.

Fluorescence In Situ Hybridization (FISH)

Fluorescence in situ hybridization (FISH) is a molecular diagnostic technique utilizing labeled DNA probes to detect or confirm gene or chromosome abnormalities. It is often used in cancer diagnosis. The sample DNA (metaphase chromosomes or interphase nuclei) is first denatured, a fluorescently labeled probe of interest is then added to the denatured sample mixture and hybridizes with the sample DNA at the target site as it re-anneals back into a double stranded DNA. The probe signal can then be seen through a fluorescent microscope and the sample DNA can be scored for the presence or absence of the signal. Unlike most other techniques used to study chromosomes, FISH does not have to be performed on cells that are actively dividing. This makes it a very versatile procedure. Uses encompass a wide range of applications such as the detection of aneuploidy, constitutional microdeletion syndromes as well as rearrangements. These aberrations have clinical implications for numerous genetic diseases such as leukemia, lymphoma, solid tumors, autism and other developmental syndromes. FISH probes are commonly made from BAC clones.

Leukemias, lymphomas, other hematopoietic malignancies and some types of solid tumors can often be characterized by specific chromosomal and genetic abnormalities. Interphase FISH does not require cell division. FISH can be used to identify those specific abnormalities that are more common. Chromosome analysis may be ordered in conjunction with or prior to FISH testing.

FISH studies are used to determine the presence of a known or suspected abnormality. This is particularly useful when there are few or no dividing cells in the sample for cytogenetic analysis.

  • When requested, fluorescence in situ hybridization (FISH) can be performed as an adjunct to a Integrated Oncology cytogenetics study
  • Interpretation and report (added to all Interphase or Metaphase FISH)
  • New probes/FISH tests are frequently added to this list. Please contact Client Services if the test you desire is not included in the list. For additional probes, refer to our FISH Probe Library.
Reporting Time : 3 Days (From the day sample reaches our Lab)
Whole blood: Send in EDTA Tubes (Purple Top Vacutainer)
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At DNA Labs India, we are dedicated to quality DNA testing. We know that you need accurate, reliable results for such an important test, and we are committed to providing you with high quality DNA testing services. By choosing DNA Labs India, you will receive the highest quality, most conclusive results in the industry.

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  • CAP: The College of American Pathologists, the principal organization of board-certified pathologists, serves and represents the interest of patients, pathologists, and the public by fostering excellence in the practice of pathology and laboratory medicine.
  • Clinical Laboratory Improvement Amendments (CLIA) in 1988 establishing quality standards for all laboratory testing to ensure the accuracy, reliability and timeliness of patient test results regardless of where the test was performed.
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Fish (Fluorescence In-Situ Hybridization) Studies & Tests