Short Description

NGS genetic DNA test detecets for variant and mutation detection in TPM2 gene for Arthrogryposis, distal, type 1A

PreTest Information

Clinical History of Patient who is going for TPM2 Gene Arthrogryposis, distal, type 1A NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TPM2 Gene Arthrogryposis, distal, type 1A NGS Genetic DNA Test gene TPM2

Detail Description

TPM2 Gene Arthrogryposis, Distal, Type 1A NGS Genetic DNA Test

Arthrogryposis, distal, type 1A is a rare genetic disorder that affects the muscles and joints, causing stiffness and limited movement in the hands and feet. It is caused by mutations in the TPM2 gene, which provides instructions for making a protein that is important for muscle contraction.

Symptoms of Arthrogryposis, distal, type 1A usually appear at birth or in early childhood and can include:

• Stiffness and limited movement in the hands and feet
• Contractures (permanent tightening of the muscles and tendons)
• Weakness in the muscles of the hands and feet
• Abnormal curvature of the spine (scoliosis)
• Difficulty with walking or standing

Diagnosis of Arthrogryposis, distal, type 1A is usually based on physical examination and medical history. Genetic testing, such as the TPM2 gene NGS Genetic DNA Test, can confirm the diagnosis.

The TPM2 gene NGS Genetic DNA Test is a Next-Generation Sequencing (NGS) test that analyzes the DNA sequence of the TPM2 gene to detect mutations that may cause Arthrogryposis, distal, type 1A. The test is performed on a blood or saliva sample and typically costs INR 20,000.

If a mutation is detected, genetic counseling may be recommended to help individuals and families understand the implications of the diagnosis and to discuss options for treatment and management.

While there is no cure for Arthrogryposis, distal, type 1A, treatment can help manage the symptoms and improve quality of life. Treatment options may include:

• Physical therapy to improve range of motion and strengthen muscles
• Occupational therapy to teach skills for daily living
• Orthopedic devices, such as braces or splints, to support joints and improve mobility
• Surgery to correct joint contractures or scoliosis
• Pain management

In conclusion, Arthrogryposis, distal, type 1A is a rare genetic disorder that can cause significant physical limitations. The TPM2 gene NGS Genetic DNA Test can provide a definitive diagnosis and help individuals and families understand the implications of the disorder. While there is no cure, treatment can help manage symptoms and improve quality of life.

If you suspect you or a loved one may have Arthrogryposis, distal, type 1A, speak with a healthcare provider or genetic counselor to discuss testing options.

For further information on genetic testing, visit DNA Labs India.