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Accurate Test Results for TNNT3 Gene Arthrogryposis, distal, type 2B NGS Genetic DNA Test
TNNT3 Gene Arthrogryposis, distal, type 2B NGS Genetic DNA Test Cost 20000 Rs
TNNT3 Gene Arthrogryposis, distal, type 2B NGS Genetic DNA Test Details
TNNT3 Gene Arthrogryposis, Distal, Type 2B NGS Genetic DNA Test
Arthrogryposis is a rare congenital disorder characterized by the presence of joint contractures, muscle weakness, and fibrosis. It is caused by abnormalities in fetal movement during development and can affect various parts of the body, including the arms, legs, and spine. Arthrogryposis is a heterogeneous disorder, which means that it can be caused by mutations in different genes.
One of the genes associated with arthrogryposis is TNNT3. TNNT3 encodes for the protein troponin T, which is a component of the troponin complex involved in muscle contraction. Mutations in TNNT3 have been associated with distal arthrogryposis type 2B (DA2B), a subtype of arthrogryposis that mainly affects the hands and feet.
Symptoms
The main symptoms of DA2B include:
- Contractures of the fingers and toes
- Clubfoot
- Camptodactyly (fixed flexion of the fingers)
- Hammer toes
- Inability to fully extend the fingers and toes
In some cases, DA2B can also affect the knees and elbows, causing contractures and limited range of motion.
Diagnosis
Diagnosis of DA2B is based on clinical evaluation and genetic testing. Physical examination can reveal the characteristic contractures and deformities of the hands and feet. Genetic testing can confirm the presence of mutations in TNNT3.
NGS (Next Generation Sequencing) genetic DNA test is a powerful and efficient tool for identifying mutations in TNNT3. NGS allows for the simultaneous sequencing of multiple genes, providing comprehensive and accurate genetic information.
Cost of TNNT3 Gene Arthrogryposis, Distal, Type 2B NGS Genetic DNA Test
The cost of the TNNT3 Gene Arthrogryposis, Distal, Type 2B NGS Genetic DNA Test is INR 20,000. This test is available at DNA Labs India, a leading provider of genetic testing services in India.
Conclusion
DA2B is a rare subtype of arthrogryposis caused by mutations in the TNNT3 gene. The main symptoms of DA2B include contractures of the fingers and toes, clubfoot, camptodactyly, hammer toes, and limited range of motion. Diagnosis of DA2B is based on clinical evaluation and genetic testing, with NGS genetic DNA test being a powerful and efficient tool for identifying mutations in TNNT3. DNA Labs India offers the TNNT3 Gene Arthrogryposis, Distal, Type 2B NGS Genetic DNA Test at a cost of INR 20,000.
If you or your loved one is showing symptoms of DA2B, it is important to seek medical advice and consider genetic testing for accurate diagnosis and appropriate management.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for TNNT3 Gene Arthrogryposis, distal, type 2B NGS Genetic DNA Test