Chromosome Breakage Syndrome

Chromosome Breakage Syndrome

Disease: Genetics

Method: Cell culture

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Sample Types
  • Peripheral blood (4-5ml)

9,000.00/- Rs ₹12,000.0025% off

  • Results in : 8-10 days

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Chromosome Breakage Syndrome Cost 9000 Rs


Test Name Chromosome Breakage Syndrome
Test type Gynecologist
Pre-test Information Chromosome Breakage Syndrome can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.
Report Delivery 8-10 days
Components Sodium Heparin Vacutainer
Price ₹ 9000
Method Cell culture

Chromosome Breakage Syndrome Details


Short Description

Chromosome Breakage Syndrome is performed using Cell culture methodology. Sample that have to be given is Peripheral blood (4-5ml) in Sodium Heparin Vacutainer for this test. You can expect results in 8-10 days

Test Specifications

  • Speciality: Gynecologist

  • Components: Sodium Heparin Vacutainer

  • Department:

  • Shipping Stability: Ambient/Cool pack

PreTest Information

Chromosome Breakage Syndrome can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.

Detail Description

Chromosome Breakage Syndrome - Cost, Symptoms, Diagnosis

Chromosome Breakage Syndrome (CBS) is a rare genetic disorder that affects the body's ability to repair damaged DNA. This can result in a variety of symptoms and health problems, including an increased risk of cancer. CBS is caused by mutations in certain genes that are involved in DNA repair.

If you or a loved one has been diagnosed with CBS, it's important to get accurate and reliable genetic testing to determine the specific gene mutations involved. This can help with treatment planning and management of the disorder.

Cost of Chromosome Breakage Syndrome Testing

At DNA Labs India, we offer affordable genetic testing for CBS. Our CBS testing package costs INR 9000 and includes:

  • Consultation with a genetic counselor
  • Blood sample collection kit
  • Analysis of the BRCA1, BRCA2, and PALB2 genes
  • Interpretation of test results
  • Comprehensive report outlining the results and their implications

We understand the importance of accurate and timely testing, and we strive to provide our clients with the highest quality service at an affordable price.

Symptoms of Chromosome Breakage Syndrome

The symptoms of CBS can vary depending on the specific gene mutations involved. Some common symptoms include:

  • Increased risk of cancer, particularly breast, ovarian, and pancreatic cancer
  • Increased risk of leukemia and lymphoma
  • Abnormal skin pigmentation
  • Growth retardation
  • Abnormalities of the bones and skeleton

It's important to note that not everyone with CBS will experience all of these symptoms, and some individuals may have no symptoms at all.

Diagnosis of Chromosome Breakage Syndrome

Diagnosis of CBS typically involves genetic testing to identify the specific gene mutations involved. This can help with treatment planning and management of the disorder.

At DNA Labs India, we offer comprehensive genetic testing for CBS. Our testing process involves:

  1. Consultation with a genetic counselor
  2. Blood sample collection kit
  3. Analysis of the BRCA1, BRCA2, and PALB2 genes
  4. Interpretation of test results
  5. Comprehensive report outlining the results and their implications

Our testing process is simple and non-invasive, and our team of experts is available to answer any questions or concerns you may have throughout the process.

Conclusion

Chromosome Breakage Syndrome is a rare genetic disorder that can have serious health consequences if left untreated. If you or a loved one has been diagnosed with CBS, it's important to get accurate and reliable genetic testing to determine the specific gene mutations involved. At DNA Labs India, we offer affordable and accurate genetic testing for CBS, along with expert consultation and support throughout the testing process.

Frequently Asked Questions

  • What is the cost of Chromosome Breakage Syndrome?

    Cost of Chromosome Breakage Syndrome is 9000 Rs

  • Chromosomal Breakage Syndrome

    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.

  • Chromosome Instability

    Chromosome instability is a characteristic cytogenetic feature of a number of genetically determined human disorders collectively known as chromosome breakage syndromes. Included among the disorders are Bloom's syndrome (BS), Fanconi's anaemia (FA), ataxia-telangiectasia (AT). 

  • How are chromosome breaks repaired?

    Unwanted chromosome breaks are considered the single most deleterious form of DNA damage to the cell. The two main pathways to repair of double-strand breaks, non-homologous end-joining (NHEJ) and DNA homology-mediated recombination repair (HRR or HR), are described elsewhere in much greater detail. 

  • Genetic causes

    Ataxia-telangiectasia is caused by a single gene inherited as an autosomal recessive trait. Patients are usually compound heterozygotes, with different mutations in the 2 alleles of ATM. However, some ATM mutations, especially missense mutations, produce a dominant-negative effect (in which a mutation in only 1 of the 2 alleles of the gene results in the disease phenotype). 

  • Chromosome breakage syndromes and Cancer

    There exist numerous genetic disorders, marked by chromosome instability, that is strikingly associated with various cancers. Both the chromosomal instabilities and neoplastic outcomes are related to abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis.

    Among these diseases are ataxia-telangiectasia and Nijmegen breakage syndrome, with increased incidences of lymphomas. Bloom syndrome, Werner syndrome, and Rothmund-Thompson syndrome, each characterized by a DNA helicase defect, are associated with early incidences of different cancers. 

  • Pathophysiology

    The disorder affects all bone marrow elements and is associated with cardiac, renal, GI, oral, ear, and limb malformations; dermal pigmentary changes; hypogonadism; and solid tumours.

  • What is the cost of Chromosome Breakage Syndrome?

    Chromosome Breakage Syndrome costs 9000 Rs

  • How many days does it take for reports?

    Reports will take 8-10 working days

₹9,000.00 ₹12,000.0025% off

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