Short Description

NGS genetic DNA test detecets for variant and mutation detection in GDF5 gene for Brachydactyly type A1C

PreTest Information

Clinical History of Patient who is going for GDF5 Gene Brachydactyly type A1C NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GDF5 Gene Brachydactyly type A1C NGS Genetic DNA Test gene GDF5

Detail Description

GDF5 Gene Brachydactyly type A1C NGS Genetic DNA Test

Brachydactyly type A1C is a rare genetic disorder characterized by shortened fingers and toes. It is caused by mutations in the GDF5 gene, which provides instructions for making a protein that is involved in the development and maintenance of bones and joints. This disorder is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene to develop the condition.

Symptoms of Brachydactyly type A1C

The main symptom of Brachydactyly type A1C is shortened fingers and toes. The affected digits may be stubby or misshapen, and they may have an unusual curvature. In some cases, the nails on the affected digits may also be abnormally shaped or missing.

Other symptoms of Brachydactyly type A1C may include:

• Joint pain or stiffness
• Abnormal bone growth
• Delayed bone age
• Short stature
• Cleft lip or palate

Diagnosis of Brachydactyly type A1C

Brachydactyly type A1C is typically diagnosed based on a physical examination and a review of the patient's medical history. Genetic testing may also be used to confirm the diagnosis and identify the specific mutation in the GDF5 gene that is causing the condition.

GDF5 Gene Brachydactyly type A1C NGS Genetic DNA Test

The GDF5 Gene Brachydactyly type A1C NGS Genetic DNA Test is a genetic test that can identify mutations in the GDF5 gene that are associated with Brachydactyly type A1C. This test uses next-generation sequencing (NGS) technology to analyze the patient's DNA and identify any mutations in the GDF5 gene.

Cost of GDF5 Gene Brachydactyly type A1C NGS Genetic DNA Test

The cost of the GDF5 Gene Brachydactyly type A1C NGS Genetic DNA Test in India is INR 20,000.

Conclusion

Brachydactyly type A1C is a rare genetic disorder that can cause shortened fingers and toes. It is caused by mutations in the GDF5 gene, and it is inherited in an autosomal dominant pattern. The GDF5 Gene Brachydactyly type A1C NGS Genetic DNA Test is a genetic test that can identify mutations in the GDF5 gene that are associated with this condition. If you or a loved one is experiencing symptoms of Brachydactyly type A1C, talk to your doctor about getting tested.