Short Description

NGS genetic DNA test detecets for variant and mutation detection in VSX1 gene for Craniofacial anomalies and anterior segment dysgenesis syndrome

PreTest Information

Clinical History of Patient who is going for VSX1 Gene Craniofacial anomalies and anterior segment dysgenesis syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with VSX1 Gene Craniofacial anomalies and anterior segment dysgenesis syndrome NGS Genetic DNA Test gene VSX1

Detail Description

VSX1 Gene Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Anterior segment dysgenesis (ASD) syndrome is a genetic disorder that affects the development of the front part of the eye. It is a rare condition that can cause various eye anomalies, including glaucoma, cataracts, and corneal opacities. Craniofacial anomalies, on the other hand, refer to abnormalities in the development of the face and skull.

The VSX1 gene has been identified as a potential cause of both craniofacial anomalies and ASD syndrome. This gene provides instructions for making a protein that is involved in the development of the eye and face.

Symptoms of VSX1 Gene Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome

The symptoms of VSX1 gene craniofacial anomalies and ASD syndrome can vary widely depending on the specific mutations involved. Some common symptoms may include:

• Corneal opacities
• Glaucoma
• Cataracts
• Abnormalities in the shape and size of the eyes
• Abnormalities in the development of the face and skull
• Reduced vision
• Eye pain or discomfort

Diagnosis of VSX1 Gene Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome

Diagnosis of VSX1 gene craniofacial anomalies and ASD syndrome can be challenging due to the rarity of the condition and the wide range of symptoms that can be present. A genetic test that looks for mutations in the VSX1 gene can help confirm a diagnosis. Other tests, such as a comprehensive eye exam, may also be necessary to evaluate the extent of the eye abnormalities.

NGS Genetic DNA Test Cost INR:20000

The cost of an NGS genetic DNA test for VSX1 gene craniofacial anomalies and ASD syndrome can vary depending on the specific testing facility and location. In India, the cost of this test is typically around INR 20,000.

Conclusion

VSX1 gene craniofacial anomalies and anterior segment dysgenesis syndrome are rare genetic disorders that can cause a range of eye and facial abnormalities. While diagnosis can be challenging, a genetic test that looks for mutations in the VSX1 gene can help confirm a diagnosis and inform appropriate treatment options. If you or a loved one is experiencing symptoms related to this condition, speak with a healthcare professional to determine the best course of action.

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