Short Description

NGS genetic DNA test detecets for variant and mutation detection in CHST14 gene for Ehlers-Danlos syndrome, musculocontractural type 1

PreTest Information

Clinical History of Patient who is going for CHST14 Gene Ehlers-Danlos syndrome, musculocontractural type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CHST14 Gene Ehlers-Danlos syndrome, musculocontractural type 1 NGS Genetic DNA Test gene CHST14

Detail Description

CHST14 Gene Ehlers-Danlos Syndrome, Musculocontractural Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that affect the skin, joints, and blood vessels. One rare form of EDS is the musculocontractural type 1 (MC1), which is caused by mutations in the CHST14 gene. DNA Labs India offers a genetic DNA test for MC1, which costs INR 20000. This blog will discuss the symptoms and diagnosis of MC1 and how the genetic DNA test can help.

Symptoms of MC1

MC1 is a rare form of EDS that is characterized by a distinctive facial appearance, joint contractures, and muscle weakness. Other symptoms may include:

• Short stature
• Small hands and feet
• Clubfoot
• Thin skin with visible veins
• Easy bruising
• Delayed motor development

The severity of symptoms can vary widely between individuals with MC1.

Diagnosis of MC1

Diagnosis of MC1 is usually based on clinical features and genetic testing. A physical examination may reveal joint contractures, muscle weakness, and distinctive facial features. Skin biopsy may also be performed to confirm the diagnosis.

Genetic testing is the most reliable way to diagnose MC1. The CHST14 gene is responsible for encoding an enzyme that is involved in the synthesis of dermatan sulfate, a type of glycosaminoglycan that is important for the structure and function of connective tissues. Mutations in the CHST14 gene can impair the production of dermatan sulfate, leading to the symptoms of MC1.

NGS Genetic DNA Test for MC1

DNA Labs India offers a next-generation sequencing (NGS) genetic DNA test for MC1. The test analyzes the CHST14 gene for mutations using advanced sequencing technology. The test is non-invasive and involves collecting a small sample of saliva or blood from the patient. The test results are highly accurate and can confirm a diagnosis of MC1.

Cost of MC1 Genetic DNA Test

The cost of the MC1 genetic DNA test at DNA Labs India is INR 20000. This is a competitive price for a high-quality genetic test that can provide valuable information about a rare genetic disorder.

Conclusion

MC1 is a rare form of EDS that is caused by mutations in the CHST14 gene. The symptoms of MC1 can vary widely between individuals, but may include joint contractures, muscle weakness, and distinctive facial features. Genetic testing is the most reliable way to diagnose MC1, and DNA Labs India offers a non-invasive NGS genetic DNA test for MC1 at a cost of INR 20000. If you or a loved one is experiencing symptoms of MC1, consider getting tested to confirm a diagnosis and receive appropriate medical care.