Short Description

NGS genetic DNA test detecets for variant and mutation detection in ERCC3 gene for Trichothiodystrophy

PreTest Information

Clinical History of Patient who is going for ERCC3 Gene Trichothiodystrophy NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC3 Gene Trichothiodystrophy NGS Genetic DNA Test gene ERCC3

Detail Description

ERCC3 Gene Trichothiodystrophy NGS Genetic DNA Test

Trichothiodystrophy is a rare genetic disorder that affects the development and growth of hair, skin, and nails. The disorder is caused by mutations in the ERCC3 gene, which encodes a protein that plays a critical role in DNA repair. Individuals with Trichothiodystrophy have brittle, dry hair that breaks easily, and may also have intellectual disability, short stature, and other developmental abnormalities.

ERCC3 Gene Trichothiodystrophy NGS Genetic DNA Test is a diagnostic test that detects mutations in the ERCC3 gene. The test is performed using next-generation sequencing (NGS) technology, which allows for the simultaneous detection of multiple genetic mutations in a single sample.

Symptoms of Trichothiodystrophy

The symptoms of Trichothiodystrophy vary widely depending on the severity of the mutation. Some individuals may have only mild hair abnormalities, while others may have severe developmental delays and intellectual disability. Some common symptoms of Trichothiodystrophy include:

• Brittle, dry hair that breaks easily
• Slow growth of hair, skin, and nails
• Sensitivity to sunlight
• Intellectual disability
• Short stature
• Abnormal facial features
• Developmental abnormalities

Diagnosis of Trichothiodystrophy

Trichothiodystrophy is diagnosed based on the symptoms, physical examination, and genetic testing. ERCC3 Gene Trichothiodystrophy NGS Genetic DNA Test is a reliable diagnostic tool that helps in identifying mutations in the ERCC3 gene. The test is performed on a blood or saliva sample, and the results are usually available within a few weeks.

Cost of ERCC3 Gene Trichothiodystrophy NGS Genetic DNA Test

The cost of ERCC3 Gene Trichothiodystrophy NGS Genetic DNA Test in India is around INR 20,000. The cost may vary depending on the location and the laboratory where the test is performed.

Conclusion

ERCC3 Gene Trichothiodystrophy NGS Genetic DNA Test is a reliable diagnostic tool that helps in identifying mutations in the ERCC3 gene. The test is useful in diagnosing Trichothiodystrophy, a rare genetic disorder that affects the development and growth of hair, skin, and nails. The cost of the test is around INR 20,000 in India, and the results are usually available within a few weeks. If you suspect that you or your child may have Trichothiodystrophy, it is essential to consult a genetic counselor or a healthcare professional for accurate diagnosis and appropriate treatment.