TYR Gene Albinism oculocutaneous type 1A Genetic Test
Test Name: TYR Gene Albinism oculocutaneous type 1A 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 TYR Gene Albinism, oculocutaneous type 1A NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TYR Gene Albinism, oculocutaneous type 1A NGS Genetic DNA Test gene TYR
Test Details: The TYR gene is responsible for providing instructions to make an enzyme called tyrosinase. This enzyme plays a crucial role in the production of melanin, the pigment that gives color to the skin, hair, and eyes. Albinism, oculocutaneous type 1A (OCA1A) is a genetic condition characterized by a complete absence of melanin production in the body. This results in very light or white hair, skin, and eye color, as well as vision problems. NGS (Next-Generation Sequencing) is a high-throughput DNA sequencing technology that can rapidly analyze multiple genes simultaneously. In the case of the TYR gene, NGS can be used to identify mutations or variations in the gene that may be responsible for causing OCA1A. A genetic test for TYR gene mutations using NGS technology can help confirm a diagnosis of OCA1A and provide valuable information about the specific genetic changes that are present. This information can be used for genetic counseling, family planning, and potentially targeted treatment options in the future.
Test Name | TYR Gene Albinism oculocutaneous type 1A 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 TYR Gene Albinism, oculocutaneous type 1A NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TYR Gene Albinism, oculocutaneous type 1A NGS Genetic DNA Test gene TYR |
Test Details |
The TYR gene is responsible for providing instructions to make an enzyme called tyrosinase. This enzyme plays a crucial role in the production of melanin, the pigment that gives color to the skin, hair, and eyes. Albinism, oculocutaneous type 1A (OCA1A) is a genetic condition characterized by a complete absence of melanin production in the body. This results in very light or white hair, skin, and eye color, as well as vision problems. NGS (Next-Generation Sequencing) is a high-throughput DNA sequencing technology that can rapidly analyze multiple genes simultaneously. In the case of the TYR gene, NGS can be used to identify mutations or variations in the gene that may be responsible for causing OCA1A. A genetic test for TYR gene mutations using NGS technology can help confirm a diagnosis of OCA1A and provide valuable information about the specific genetic changes that are present. This information can be used for genetic counseling, family planning, and potentially targeted treatment options in the future. |