ERCC2 Gene Trichothiodystrophy Genetic Test
Test Name: ERCC2 Gene Trichothiodystrophy Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test Type: Osteology Dermatology Immunology Disorders
Doctor: Dermatologist
Test Department: Genetics
Pre Test 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
Test Details
Trichothiodystrophy (TTD) is a rare genetic disorder that affects the hair, skin, and nails. It is caused by mutations in various genes, one of which is the ERCC2 gene. The ERCC2 gene provides instructions for making a protein called XPD, which is involved in repairing damaged DNA. Mutations in the ERCC2 gene can lead to a deficiency in XPD protein function, resulting in impaired DNA repair.
To diagnose TTD caused by mutations in the ERCC2 gene, a Next-Generation Sequencing (NGS) genetic test can be performed. NGS is a high-throughput method that allows for the simultaneous sequencing of multiple genes. In this case, the test would specifically target the ERCC2 gene and analyze its sequence for any mutations.
NGS genetic testing for ERCC2 gene mutations can be helpful in confirming a diagnosis of TTD and identifying individuals who may be at risk of developing the disorder. It can also provide information about the specific mutation present, which can be useful for genetic counseling and family planning.
It is important to note that genetic testing should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support.
| Test Name | ERCC2 Gene Trichothiodystrophy Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Osteology Dermatology Immunology Disorders |
| Doctor | Dermatologist |
| Test Department: | Genetics |
| Pre Test 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 |
| Test Details |
Trichothiodystrophy (TTD) is a rare genetic disorder that affects the hair, skin, and nails. It is caused by mutations in various genes, one of which is the ERCC2 gene. The ERCC2 gene provides instructions for making a protein called XPD, which is involved in repairing damaged DNA. Mutations in the ERCC2 gene can lead to a deficiency in XPD protein function, resulting in impaired DNA repair. To diagnose TTD caused by mutations in the ERCC2 gene, a Next-Generation Sequencing (NGS) genetic test can be performed. NGS is a high-throughput method that allows for the simultaneous sequencing of multiple genes. In this case, the test would specifically target the ERCC2 gene and analyze its sequence for any mutations. NGS genetic testing for ERCC2 gene mutations can be helpful in confirming a diagnosis of TTD and identifying individuals who may be at risk of developing the disorder. It can also provide information about the specific mutation present, which can be useful for genetic counseling and family planning. It is important to note that genetic testing should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support. |
