Short Description

NGS genetic DNA test detecets for variant and mutation detection in B3GALT6 gene for Ehlers-Danlos syndrome, progeroid type, type 2

PreTest Information

Clinical History of Patient who is going for B3GALT6 Gene Ehlers-Danlos syndrome, progeroid type, type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with B3GALT6 Gene Ehlers-Danlos syndrome, progeroid type, type 2 NGS Genetic DNA Test gene B3GALT6

Detail Description

B3GALT6 Gene Ehlers-Danlos Syndrome, Progeroid Type, Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Ehlers-Danlos Syndrome (EDS) is a group of genetic connective tissue disorders that affect the skin, joints, and blood vessels. EDS is caused by mutations in various genes, one of which is the B3GALT6 gene. When mutations occur in the B3GALT6 gene, it can lead to a specific subtype of EDS called Progeroid Type, Type 2 (P2EDS).

Symptoms of B3GALT6 Gene Ehlers-Danlos Syndrome

Progeroid Type, Type 2 EDS is a rare condition with only a few reported cases worldwide. Symptoms of this condition can include:

• Hyperelastic and fragile skin
• Joint hypermobility
• Wrinkling of the skin
• Premature aging
• Short stature
• Fine, sparse hair
• Small jaw and thin lips
• Small nose
• Thin, transparent skin with visible veins
• Severe bruising and scarring

Diagnosis of B3GALT6 Gene Ehlers-Danlos Syndrome

The diagnosis of Progeroid Type, Type 2 EDS is made through genetic testing. Next-generation sequencing (NGS) is a type of genetic testing that can identify mutations in the B3GALT6 gene. NGS is a more efficient and cost-effective method of genetic testing compared to traditional methods.

NGS Genetic DNA Test Cost

The cost of NGS genetic testing for B3GALT6 Gene Ehlers-Danlos Syndrome, Progeroid Type, Type 2 in India is INR 20,000.

Conclusion

B3GALT6 Gene Ehlers-Danlos Syndrome, Progeroid Type, Type 2 is a rare condition that can be diagnosed through genetic testing. NGS is a cost-effective and efficient method of genetic testing for this condition. If you or a loved one are experiencing symptoms of Progeroid Type, Type 2 EDS, it is important to speak with a healthcare provider and consider genetic testing.

At DNA Labs India, we offer a wide range of genetic testing services including NGS genetic testing for B3GALT6 Gene Ehlers-Danlos Syndrome, Progeroid Type, Type 2. Our team of genetic counselors and scientists are dedicated to providing accurate and reliable genetic testing services to our clients. Contact us today to learn more about our services and how we can help you.