Short Description

NGS genetic DNA test detecets for variant and mutation detection in ERCC2 gene for Trichothiodystrophy

PreTest Information

Clinical History of Patient who is going for ERCC2 Gene Trichothiodystrophy NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC2 Gene Trichothiodystrophy NGS Genetic DNA Test gene ERCC2

Detail Description

ERCC2 Gene Trichothiodystrophy NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Trichothiodystrophy (TTD) is a rare genetic disorder that affects the hair, skin, and nails. It is caused by mutations in genes that are involved in DNA repair, including the ERCC2 gene. The ERCC2 gene provides instructions for making a protein that is involved in repairing damaged DNA. Mutations in this gene can lead to TTD.

The symptoms of TTD can vary widely from person to person and can include:

• Brittle hair that is easily broken or falls out
• Slow hair growth
• Scaly skin
• Photosensitivity
• Intellectual disability or developmental delays

Diagnosing TTD can be challenging because the symptoms can be similar to other conditions. A genetic test is the most accurate way to diagnose TTD. The ERCC2 gene Trichothiodystrophy NGS Genetic DNA Test is a type of genetic test that can detect mutations in the ERCC2 gene.

The ERCC2 gene Trichothiodystrophy NGS Genetic DNA Test is a non-invasive test that involves collecting a small sample of blood or saliva. The sample is sent to a laboratory where it is analyzed for mutations in the ERCC2 gene. Results of the test can take a few weeks to come back.

The cost of the ERCC2 gene Trichothiodystrophy NGS Genetic DNA Test can vary depending on the laboratory that performs the test. In India, the cost of the test is typically around INR 20,000.

Why Get Tested?

If you or your child is experiencing symptoms of TTD, a genetic test can help confirm the diagnosis. A confirmed diagnosis can help you and your doctor develop a treatment plan and better understand the potential complications of the condition.

If you have a family history of TTD or other genetic disorders, you may also want to consider genetic testing to determine your risk of passing the condition on to your children.

Conclusion

The ERCC2 gene Trichothiodystrophy NGS Genetic DNA Test is a valuable tool for diagnosing TTD. If you or your child is experiencing symptoms of TTD, or if you have a family history of the condition, talk to your doctor about whether genetic testing is right for you. While the cost of the test can vary, it is typically around INR 20,000 in India. Early diagnosis and treatment can improve outcomes for individuals with TTD.

For more information on genetic testing and DNA labs in India, contact DNA Labs India.

Disclaimer: This blog is for informational purposes only and should not be used as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare providers with any questions you may have regarding a medical condition.