Tyr Gene Albinism Oculocutaneous Type 1B NGS Genetic DNA Test
Introduction
The Tyr Gene Albinism Oculocutaneous Type 1B NGS Genetic DNA Test is a state-of-the-art diagnostic tool designed to identify mutations in the TYR gene, which plays a crucial role in melanin production. Albinism is a genetic condition that affects pigmentation in the skin, hair, and eyes. Understanding the genetic basis of this condition is vital for affected individuals and their families, as it informs management and care options.
What the Test Measures
This test specifically detects variations in the TYR gene, which are responsible for oculocutaneous albinism type 1B. By analyzing the DNA, the test can confirm the presence of pathogenic mutations that lead to this condition.
Who Should Consider This Test
Individuals who should consider the Tyr Gene Albinism test include:
- Individuals with a family history of albinism.
- Patients exhibiting symptoms of albinism, such as light skin and hair, vision problems, and sensitivity to sunlight.
- Families seeking genetic counseling to understand their risks and management options.
Benefits of Taking the Test
- Provides a definitive diagnosis of albinism related to TYR gene mutations.
- Helps in understanding the inheritance patterns within families.
- Guides management and care strategies for affected individuals.
- Offers peace of mind for families concerned about genetic conditions.
Understanding Your Results
Results from the Tyr Gene Albinism test will indicate whether pathogenic mutations are present in the TYR gene. A genetic counselor will assist in interpreting the results, discussing their implications, and guiding any necessary next steps.
Test Information and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Tyr Gene Albinism Oculocutaneous Type 1B NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the Tyr Gene Albinism Oculocutaneous Type 1B NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling your appointment and answering any questions you may have.
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The sample type required can be blood or extracted DNA, or one drop of blood on an FTA card. It is recommended to undergo a genetic counseling session to draw a pedigree chart of family members affected by TYR gene albinism prior to testing.
This test falls under the specialty of Dermatology, with a focus on Genetics, utilizing NGS technology to diagnose Osteology, Dermatology, and Immunology disorders.
