Short Description

NGS genetic DNA test detecets for variant and mutation detection in NOP10 gene for Dyskeratosis congenita, autosomal recessive type 1

PreTest Information

Clinical History of Patient who is going for NOP10 Gene Dyskeratosis congenita, autosomal recessive type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NOP10 Gene Dyskeratosis congenita, autosomal recessive type 1 NGS Genetic DNA Test gene NOP10

Detail Description

DNA Labs India: NGS Genetic DNA Test for NOP10 Gene Dyskeratosis Congenita, Autosomal Recessive Type 1

Dyskeratosis Congenita (DC) is a rare genetic disorder that affects multiple systems in the body, including the skin, nails, and bone marrow. It is caused by mutations in genes that are involved in maintaining the structure and function of telomeres, which are the protective caps at the ends of chromosomes that prevent them from deteriorating.

One of the genes that can be mutated in DC is NOP10, which encodes a protein that is involved in the processing of RNA molecules. Mutations in NOP10 can cause DC of the autosomal recessive type 1 (DKCA1), which is characterized by the triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. Other symptoms may include bone marrow failure, pulmonary fibrosis, and liver disease.

Diagnosis of DKCA1

DKCA1 can be diagnosed by genetic testing, which involves analyzing a patient's DNA for mutations in the NOP10 gene. Next-generation sequencing (NGS) technology allows for rapid and accurate sequencing of large amounts of DNA, making it an ideal tool for genetic testing.

The cost of NGS genetic DNA testing for DKCA1 at DNA Labs India is INR 20,000. This includes the cost of DNA extraction, library preparation, sequencing, and data analysis.

Benefits of Genetic Testing

Genetic testing can provide several benefits for individuals with DKCA1 and their families. It can confirm a diagnosis, which can help guide medical management and treatment decisions. It can also provide information about the risk of passing the condition on to future generations, which can inform family planning decisions.

In addition, genetic testing can help identify carriers of the condition, who may not have any symptoms themselves but can still pass the condition on to their children. This information can be used to provide genetic counseling and to screen other family members for the condition.

Conclusion

DNA Labs India offers NGS genetic DNA testing for NOP10 gene dyskeratosis congenita, autosomal recessive type 1 at a cost of INR 20,000. This testing can provide important information for individuals with DKCA1 and their families, including confirmation of a diagnosis and information about the risk of passing the condition on to future generations. Genetic testing can also help identify carriers of the condition and provide opportunities for genetic counseling and family planning.

If you or a loved one has symptoms of DKCA1 or a family history of the condition, consider genetic testing to gain a better understanding of the underlying cause and to inform medical management decisions.

For more information or to schedule a genetic testing appointment, contact DNA Labs India today.