Genetic Chromosome Breakage Syndrome For Leukemia DNA Test

Genetic Chromosome Breakage Syndrome For Leukemia DNA Test

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Chromosomal breakage syndromes are a group of genetic disorders that are typically transmitted in an autosomal recessive mode of inheritance. In culture, cells from affected individuals exhibit elevated rates of chromosomal breakage or instability, leading to chromosomal rearrangements. The disorders are characterized by a defect in DNA repair mechanisms or genomic instability, and patients with these disorders show increased predisposition to cancer.

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Chromosomal breakage syndromes are relatively rare; most practicing physicians may never see a patient with a chromosomal breakage syndrome. Some of the specific syndromes occur at relatively high rates in certain ethnic groups. Diagnosis is complicated because the symptoms may be varied and complex. These disorders are often lethal.

Patients with ataxia telangiectasia, also known as Louis-Bar syndrome, are hypersensitive to ionizing radiation, while patients with Bloom syndrome, Fanconi anemia, and xeroderma pigmentosum are sensitive to UV radiation. The ataxia telangiectasia Rad3–related (ATR) protein responds to UV damage, whereas the ataxia telangiectasia mutated (ATM) protein responds to double-strand breaks (DSBs) caused by ionizing radiation and radiomimetic compounds.

Table 1 provides a summary outline of the gene symbols, chromosomal locations, radiation sensitivity characteristics, immunodeficiencies, chromosome breakage characteristics, and major cancer risk for each of these disorders.

Table 1. Chromosomal Breakage Syndromes With Neoplasias Caused by Defective DNA Repair

At the laboratory, cells are grown in tissue culture, and chromosomes are separated from dividing cells for evaluation. A clinical cytogeneticist will analyze your chromosomes under a microscope.

Test results will be available to your doctor within 7 to 10 days

Understanding results

Chromosome Analysis/Cytogenetics/Karyotype testing is intended to identify chromosomal changes that may be associated with certain blood disorders or cancer. This test may identify other chromosomal changes not associated with cancer.

This test cannot identify certain inherited gene variations which might have increased your risk of cancer. It does not explain why a patient may develop cancer at an early age, or why they have family members with cancer.

The results of Chromosome Analysis/Cytogenetics/Karyotype testing can help your doctor provide an accurate diagnosis and select the most appropriate treatment for you.

The significance of an abnormal result will differ depending on your disease. In some diseases such as myelodysplastic syndrome (MDS) or chronic myelogenous leukemia (CML), your test result is used to confirm a diagnosis. In these and other diseases, an abnormal result provides a prognosis (aggressiveness of disease).

Your doctor may request additional testing to determine a diagnosis and appropriate treatment, if your test result is normal. Your doctor will discuss the available tests with you.

Reporting Time : 15 Days (From the day sample reaches our Lab)
Peripheral Blood: Sodium Heparin Vacutainer (4ml)

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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