Short Description

NGS genetic DNA test detecets for variant and mutation detection in ADAMTS2 gene for Ehlers-Danlos syndrome type 7C

PreTest Information

Clinical History of Patient who is going for ADAMTS2 Gene Ehlers-Danlos syndrome type 7C NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ADAMTS2 Gene Ehlers-Danlos syndrome type 7C NGS Genetic DNA Test gene ADAMTS2

Detail Description

ADAMTS2 Gene Ehlers-Danlos Syndrome Type 7C NGS Genetic DNA Test

Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders that affects the skin, joints, and blood vessels. EDS is caused by mutations in genes that encode proteins involved in the structure and function of connective tissue. One of the forms of EDS is Type 7C, which is caused by mutations in the ADAMTS2 gene.

The ADAMTS2 gene provides instructions for making an enzyme that plays a crucial role in the formation and maintenance of collagen, a key component of connective tissue. Mutations in the ADAMTS2 gene can lead to a deficiency or absence of the enzyme, resulting in the characteristic features of EDS Type 7C.

Symptoms of EDS Type 7C

EDS Type 7C is characterized by skin hyperextensibility, joint hypermobility, and a tendency to bruise easily. Individuals with EDS Type 7C may also have thin, translucent skin that is prone to tearing, as well as easy scarring. In addition, they may experience joint pain, dislocations, and arthritis.

Diagnosis of EDS Type 7C

Diagnosis of EDS Type 7C is typically made through a combination of clinical evaluation, family history, and genetic testing. A physical examination may reveal hypermobility of joints and skin hyperextensibility, while a family history may indicate a pattern of inherited connective tissue disorders. Genetic testing can confirm the presence of mutations in the ADAMTS2 gene.

NGS Genetic DNA Test for EDS Type 7C

Next-Generation Sequencing (NGS) technology allows for the rapid and accurate analysis of multiple genes associated with inherited disorders, including EDS Type 7C. The NGS Genetic DNA Test for EDS Type 7C can detect mutations in the ADAMTS2 gene, providing a definitive diagnosis for individuals with symptoms of the disorder.

Cost of NGS Genetic DNA Test for EDS Type 7C

The cost of the NGS Genetic DNA Test for EDS Type 7C in India is approximately INR 20,000.

Conclusion

EDS Type 7C is a rare inherited disorder caused by mutations in the ADAMTS2 gene. Symptoms include skin hyperextensibility, joint hypermobility, and easy bruising. Diagnosis is typically made through a combination of clinical evaluation, family history, and genetic testing. The NGS Genetic DNA Test for EDS Type 7C can provide a definitive diagnosis, and is available at a cost of approximately INR 20,000 in India.

At DNA Labs India, we offer a wide range of genetic testing services, including the NGS Genetic DNA Test for EDS Type 7C. Contact us today to learn more about our services.