Orofaciodigital Syndrome Type 4 (OFD4) is a rare genetic disorder that affects the development of the face, oral cavity, and digits. It is caused by mutations in the TCTN3 gene, which provides instructions for making a protein involved in cilia formation and function.

Symptoms

The symptoms of OFD4 can vary widely, even among affected family members. Some common symptoms include:

• Fused or missing fingers or toes
• Dental abnormalities
• Cleft lip and/or palate
• Abnormalities in the structure of the brain
• Malformation of the eyes
• Abnormalities in the kidneys

Diagnosis

Diagnosis of OFD4 can be challenging due to the wide range of symptoms and their variability. However, genetic testing can help confirm a diagnosis and identify the specific mutation in the TCTN3 gene responsible for the disorder.

NGS (Next-Generation Sequencing) genetic testing is a highly accurate and efficient method for identifying mutations in the TCTN3 gene. DNA Labs India offers NGS genetic testing for OFD4 at a cost of INR 20,000.

Conclusion

If you or a loved one are experiencing symptoms of OFD4, it is important to seek medical advice and consider genetic testing for an accurate diagnosis. DNA Labs India offers NGS genetic testing for OFD4 at an affordable cost, providing peace of mind and a path forward for treatment and management of the disorder.