Short Description

NGS genetic DNA test detecets for variant and mutation detection in MYH3 gene for Arthrogryposis, distal, type 2A

PreTest Information

Clinical History of Patient who is going for MYH3 Gene Arthrogryposis, distal, type 2A NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MYH3 Gene Arthrogryposis, distal, type 2A NGS Genetic DNA Test gene MYH3

Detail Description

MYH3 Gene Arthrogryposis, Distal, Type 2A NGS Genetic DNA Test Cost INR 20000: Symptoms, Diagnosis

Arthrogryposis, distal, type 2A is a rare genetic disorder that affects the muscles and joints of the body. It is caused by a mutation in the MYH3 gene, which provides instructions for making a protein called myosin. Myosin is essential for muscle contraction and movement.

Symptoms of MYH3 Gene Arthrogryposis, Distal, Type 2A

The symptoms of MYH3 gene arthrogryposis, distal, type 2A can vary in severity. Some common symptoms include:

• Stiffness in the joints
• Weakness in the muscles
• Difficulty with movement and coordination
• Contractures (permanent tightening of the muscles and tendons)
• Scoliosis (curvature of the spine)
• Foot deformities (such as clubfoot)

Diagnosis of MYH3 Gene Arthrogryposis, Distal, Type 2A

MYH3 gene arthrogryposis, distal, type 2A is diagnosed through genetic testing. This involves analyzing a sample of the patient's DNA to look for mutations in the MYH3 gene. The test can be done using a variety of methods, including next-generation sequencing (NGS).

NGS Genetic DNA Test Cost INR 20000

The cost of an NGS genetic DNA test for MYH3 gene arthrogryposis, distal, type 2A in India is approximately INR 20000. The test is typically performed by specialized laboratories that offer genetic testing services.

Conclusion

MYH3 gene arthrogryposis, distal, type 2A is a rare genetic disorder that can cause stiffness, weakness, and contractures in the muscles and joints. The disorder is diagnosed through genetic testing, which can be done using NGS. The cost of the test is approximately INR 20000 in India. Early diagnosis and management of the disorder can help improve outcomes for affected individuals.

If you suspect that you or someone you know may have MYH3 gene arthrogryposis, distal, type 2A, it is important to speak with a healthcare professional for proper evaluation and diagnosis.

For more information on genetic testing services in India, contact DNA Labs India.