Short Description

NGS genetic DNA test detecets for variant and mutation detection in CTDP1 gene for Cataracts with facial dysmorphism and neuropathy

PreTest Information

Clinical History of Patient who is going for CTDP1 Gene Cataracts with facial dysmorphism and neuropathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CTDP1 Gene Cataracts with facial dysmorphism and neuropathy

Detail Description

CTDP1 Gene Cataracts with facial dysmorphism and neuropathy NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

CTDP1 Gene Cataracts with facial dysmorphism and neuropathy is a rare genetic disorder that affects multiple organs. This condition is caused by mutations in the CTDP1 gene. The CTDP1 gene provides instructions for making a protein that is involved in the regulation of gene expression. Mutations in this gene can cause a range of symptoms, including cataracts, facial dysmorphism, and neuropathy.

Symptoms of CTDP1 Gene Cataracts with facial dysmorphism and neuropathy may vary from person to person. Some common symptoms include:

• Cataracts
• Facial dysmorphism
• Neuropathy

Diagnosis of CTDP1 Gene Cataracts with facial dysmorphism and neuropathy is usually done through genetic testing. Next-generation sequencing (NGS) is a powerful tool for identifying mutations in the CTDP1 gene. This test can be done at DNA Labs India for a cost of INR 20000.

If you or a loved one is experiencing symptoms of CTDP1 Gene Cataracts with facial dysmorphism and neuropathy, it is important to speak with a healthcare provider. They can refer you to a genetic counselor or specialist who can provide further information and guidance.

At DNA Labs India, we provide comprehensive genetic testing services to help diagnose and treat a wide range of genetic disorders. Contact us today to learn more about our services and how we can help you.

Cataracts with Facial Dysmorphism and Neuropathy (also known as CCFDN) is a rare genetic disorder characterized by cataracts (clouding of the lens in the eye), distinct facial features, and peripheral neuropathy (damage to the nerves that transmit information between the brain and the rest of the body). Mutations in the CTDP1 gene have been associated with CCFDN.