Short Description

NGS genetic DNA test detecets for variant and mutation detection in PIEZO2 gene for Arthrogryposis, distal, type 3

PreTest Information

Clinical History of Patient who is going for PIEZO2 Gene Arthrogryposis, distal, type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIEZO2 Gene Arthrogryposis, distal, type 3 NGS Genetic DNA Test gene PIEZO2

Detail Description

PIEZO2 Gene Arthrogryposis, distal, type 3 NGS Genetic DNA Test: Symptoms, Diagnosis and Cost

Arthrogryposis is a rare genetic disorder that affects joint flexibility and mobility. It is characterized by stiff and immobile joints, muscle weakness, and contractures. There are different types of arthrogryposis, and one of them is distal arthrogryposis type 3, which is caused by a mutation in the PIEZO2 gene.

PIEZO2 is a gene that provides instructions for making a protein that is involved in the sense of touch and proprioception, which is the ability to sense the position and movement of our body parts. When the PIEZO2 gene is mutated, it can affect the development and function of the muscles, joints, and nerves, leading to the symptoms of arthrogryposis.

Symptoms of PIEZO2 Gene Arthrogryposis, distal, type 3

The symptoms of distal arthrogryposis type 3 can vary in severity and may include:

• Stiff and immobile joints, especially in the fingers and toes
• Contractures, which are permanent muscle contractions that prevent normal movement
• Weakness and atrophy of the muscles in the hands and feet
• Hypotonia, which is low muscle tone and results in reduced strength and flexibility
• Abnormal curvature of the spine (scoliosis)
• Clubfoot, which is a congenital deformity of the foot

Diagnosis of PIEZO2 Gene Arthrogryposis, distal, type 3

Diagnosis of distal arthrogryposis type 3 is based on clinical features, family history, and genetic testing. A physical examination can reveal the characteristic joint and muscle abnormalities, and imaging studies such as X-rays or MRI can help to assess the severity and extent of the deformities.

Genetic testing is the most definitive way to diagnose distal arthrogryposis type 3. Next-generation sequencing (NGS) technology can be used to analyze the PIEZO2 gene and identify any mutations or variants that may be causing the disorder. This type of testing can also help to confirm the diagnosis and rule out other possible genetic causes of arthrogryposis.

Cost of PIEZO2 Gene Arthrogryposis, distal, type 3 NGS Genetic DNA Test

The cost of the PIEZO2 gene NGS genetic DNA test for distal arthrogryposis type 3 in India is around INR 20,000. This cost may vary depending on the testing facility and any additional services or consultations that may be required.

Conclusion

Distal arthrogryposis type 3 is a rare genetic disorder that is caused by a mutation in the PIEZO2 gene. It can lead to joint and muscle deformities, stiffness, and contractures, which can affect mobility and quality of life. Genetic testing using NGS technology can help to diagnose the disorder and provide valuable information for treatment and management. If you or a loved one are experiencing symptoms of arthrogryposis, it is important to consult a healthcare professional and consider genetic testing to determine the underlying cause and explore possible treatment options.

For more information on PIEZO2 gene arthrogryposis, distal, type 3 NGS genetic DNA testing, contact DNA Labs India, a trusted provider of genetic testing services in India.