Short Description

NGS genetic DNA test detecets for variant and mutation detection in DKC1 gene for Dyskeratosis congenita, X-linked

PreTest Information

Clinical History of Patient who is going for DKC1 Gene Dyskeratosis congenita, X-linked NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DKC1 Gene Dyskeratosis congenita, X-linked NGS Genetic DNA Test gene DKC1

Detail Description

DKC1 Gene Dyskeratosis Congenita, X-Linked NGS Genetic DNA Test

Dyskeratosis Congenita (DC) is a rare genetic disorder that affects multiple systems of the body. It is caused by mutations in genes that are responsible for maintaining the stability of the telomeres, which are the protective caps that cover the ends of our chromosomes. Dyskeratosis Congenita is a heterogeneous disease and can be inherited in an X-linked, autosomal dominant, or autosomal recessive manner.

One of the genes responsible for X-linked Dyskeratosis Congenita is DKC1. Mutations in the DKC1 gene can lead to a decrease in the length of telomeres and cause DC. The symptoms of DC can vary, but some common ones include:

• Oral leukoplakia (white patches in the mouth)
• Abnormal skin pigmentation
• Nail dystrophy (abnormal nail growth)
• Bone marrow failure
• Pulmonary fibrosis (scarring of the lungs)

Diagnosis of DC can be challenging as the symptoms can be similar to other diseases. However, genetic testing can help confirm a diagnosis. Next-Generation Sequencing (NGS) is a powerful tool that can be used to sequence the entire DKC1 gene and identify any mutations that may be present. NGS technology allows for a quick and accurate diagnosis of DC.

The cost of the DKC1 Gene Dyskeratosis Congenita, X-linked NGS Genetic DNA Test in India is INR 20,000. DNA Labs India is a leading provider of genetic testing services in India and offers a wide range of tests, including the DKC1 Gene Dyskeratosis Congenita, X-linked NGS Genetic DNA Test.

If you or someone you know is experiencing symptoms of DC or has a family history of the disease, it is important to seek medical attention and consider genetic testing. Early diagnosis and treatment can help manage symptoms and improve quality of life.

Conclusion

The DKC1 Gene Dyskeratosis Congenita, X-linked NGS Genetic DNA Test is a valuable tool in the diagnosis of Dyskeratosis Congenita. DNA Labs India offers this test at an affordable cost and is committed to providing accurate and timely results. If you have any questions about genetic testing or Dyskeratosis Congenita, please contact DNA Labs India for more information.