TYR Gene Albinism oculocutaneous type 1B Genetic Test
At DNA Labs UAE, we offer the TYR Gene Albinism oculocutaneous type 1B Genetic Test to diagnose and understand this rare genetic disorder. This test can provide valuable information about the underlying cause of albinism in individuals suspected of having OCA1B.
Test Details
The TYR gene is responsible for producing an enzyme called tyrosinase, which plays a crucial role in the production of melanin. Mutations in the TYR gene can lead to a condition known as albinism, specifically oculocutaneous type 1B (OCA1B) albinism. OCA1B is characterized by a reduction or absence of melanin pigment in the hair, skin, and eyes.
Individuals with OCA1B typically have very light or white hair, fair skin, and light-colored eyes. They may also experience vision problems, such as nystagmus (involuntary eye movement) and reduced visual acuity.
The TYR Gene Albinism oculocutaneous type 1B Genetic Test utilizes NGS (Next-Generation Sequencing) technology to analyze the DNA sequence of the TYR gene. This allows us to identify any mutations or variations that may be present. By identifying the specific mutation in the TYR gene, this test can provide a definitive diagnosis for individuals suspected of having OCA1B.
Test Components and Price
Test Name: TYR Gene Albinism oculocutaneous type 1B Genetic Test
- Components: NGS Technology
- Price: 4400.0 AED
Sample Condition and Report Delivery
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery: 3 to 4 Weeks
Test Type and Doctor
Test Type: Osteology, Dermatology, Immunology Disorders
Doctor: Dermatologist
Test Department and Pre Test Information
Test Department: Genetics
Pre Test Information: A Genetic Counselling session to draw a pedigree chart of family members affected with TYR Gene Albinism, oculocutaneous type 1B NGS Genetic DNA Test gene TYR
Importance of Genetic Testing for OCA1B
Genetic testing for OCA1B is essential for several reasons. Firstly, it provides a definitive diagnosis, allowing individuals and their families to understand the underlying cause of albinism. This information can be useful for genetic counseling, family planning, and understanding the potential risks and complications associated with OCA1B.
Additionally, genetic testing can help healthcare professionals tailor treatment plans and interventions to meet the specific needs of individuals with OCA1B. It can also assist in identifying potential carriers of the TYR gene mutation within a family, enabling informed family planning decisions.
It is important to note that genetic testing for OCA1B should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support.
| Test Name | TYR Gene Albinism oculocutaneous type 1B 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 1B NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TYR Gene Albinism, oculocutaneous type 1B NGS Genetic DNA Test gene TYR |
| Test Details |
The TYR gene is responsible for producing an enzyme called tyrosinase, which plays a crucial role in the production of melanin. Mutations in the TYR gene can lead to a condition known as albinism, specifically oculocutaneous type 1B (OCA1B) albinism. OCA1B is a rare genetic disorder characterized by a reduction or absence of melanin pigment in the hair, skin, and eyes. Individuals with OCA1B typically have very light or white hair, fair skin, and light-colored eyes. They may also have vision problems, such as nystagmus (involuntary eye movement) and reduced visual acuity. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of the TYR gene and identify any mutations or variations that may be present. This type of genetic testing can provide a definitive diagnosis for individuals suspected of having OCA1B. By identifying the specific mutation in the TYR gene, NGS testing can help determine the underlying cause of albinism in an individual. This information can be useful for genetic counseling, family planning, and understanding the potential risks and complications associated with OCA1B. It is important to note that genetic testing for OCA1B should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support. |
