Short Description

NGS genetic DNA test detecets for variant and mutation detection in DHODH gene for Postaxial acrofacial dysostosis

PreTest Information

Clinical History of Patient who is going for DHODH Gene Postaxial acrofacial dysostosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DHODH Gene Postaxial acrofacial dysostosis NGS Genetic DNA Test gene DHODH

Detail Description

DHODH Gene Postaxial Acrofacial Dysostosis NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Postaxial acrofacial dysostosis is a rare genetic disorder that affects the development of bones in the face, hands, and feet. It is caused by mutations in the DHODH gene. NGS genetic DNA testing is a diagnostic tool that can identify mutations in this gene. DNA Labs India offers this test for a cost of INR 20000.

Symptoms

The symptoms of postaxial acrofacial dysostosis can vary in severity. Some common symptoms include:

• Underdeveloped or missing fingers and/or toes
• Abnormal facial features, such as a cleft palate or a small jaw
• Short stature
• Speech difficulties
• Hearing loss

Diagnosis

Diagnosis of postaxial acrofacial dysostosis can be difficult because of its rarity and variability in symptoms. NGS genetic DNA testing is a useful tool for identifying mutations in the DHODH gene. This test involves analyzing the patient's DNA to look for specific mutations that are known to cause the disorder. Results from this test can help confirm a diagnosis and guide treatment options.

NGS Genetic DNA Test Cost INR:20000

DNA Labs India offers NGS genetic DNA testing for postaxial acrofacial dysostosis at a cost of INR 20000. This test is conducted by a team of experienced geneticists and molecular biologists using state-of-the-art technology. Results are typically available within a few weeks and include a detailed report of any mutations detected in the DHODH gene.

Conclusion

Postaxial acrofacial dysostosis is a rare genetic disorder that can cause a range of symptoms related to bone development in the face, hands, and feet. NGS genetic DNA testing is a useful tool for diagnosing this disorder by identifying mutations in the DHODH gene. DNA Labs India offers this test for a cost of INR 20000. If you or someone you know is experiencing symptoms of postaxial acrofacial dysostosis, consider speaking with a genetic counselor or healthcare provider to discuss testing options.

For more information or to schedule a test, contact DNA Labs India today.