OCA2 Gene Albinism oculocutaneous type 2 Genetic Test
At DNA Labs UAE, we offer the OCA2 Gene Albinism oculocutaneous type 2 Genetic Test. This test helps in diagnosing and managing oculocutaneous albinism type 2 (OCA2), a genetic disorder caused by mutations in the OCA2 gene.
Test Components and Price
The OCA2 Gene Albinism oculocutaneous type 2 Genetic Test is priced at 4400.0 AED. The test requires a blood sample or extracted DNA, or one drop of blood on an FTA card.
Report Delivery and Method
The report for the OCA2 Gene Albinism oculocutaneous type 2 Genetic Test is typically delivered within 3 to 4 weeks. The test utilizes NGS (Next-Generation Sequencing) technology for accurate results.
Test Type and Doctor
The OCA2 Gene Albinism oculocutaneous type 2 Genetic Test falls under the category of Osteology Dermatology Immunology Disorders. It is recommended to consult with a Dermatologist for this test.
Test Department and Pre Test Information
The OCA2 Gene Albinism oculocutaneous type 2 Genetic Test is conducted in our Genetics department. Before the test, it is important to provide the clinical history of the patient. A Genetic Counselling session will be conducted to draw a pedigree chart of family members affected by OCA2 Gene Albinism, oculocutaneous type 2 NGS Genetic DNA Test gene OCA2.
Test Details
The OCA2 gene is responsible for producing a protein called P protein, which plays a crucial role in the production of melanin. Mutations in the OCA2 gene can lead to oculocutaneous albinism type 2 (OCA2). This condition is autosomal recessive, meaning that both parents must pass on the mutated gene for the individual to develop the condition.
People with OCA2 have reduced or absent melanin production, resulting in very light or white hair, skin, and eye color. They may also experience vision problems such as reduced visual acuity, involuntary eye movement (nystagmus), and sensitivity to light (photophobia).
NGS genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze an individual’s DNA and identify specific genetic mutations. In the case of OCA2, NGS genetic testing can be used to identify mutations in the OCA2 gene associated with oculocutaneous albinism type 2.
NGS genetic testing for OCA2 is beneficial in confirming a diagnosis, especially when the clinical presentation is unclear or there is a family history of albinism. It can also provide information about specific mutations, which can aid in genetic counseling and family planning.
It is important to note that genetic testing for OCA2 is typically done alongside a comprehensive clinical evaluation, including a medical history, physical examination, and assessment of visual function. Genetic counseling is recommended before and after testing to ensure individuals understand the implications of the results and can make informed decisions.
Overall, NGS genetic testing for OCA2 provides valuable information about an individual’s genetic makeup and aids in the diagnosis and management of oculocutaneous albinism type 2.
| Test Name | OCA2 Gene Albinism oculocutaneous type 2 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 OCA2 Gene Albinism, oculocutaneous type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with OCA2 Gene Albinism, oculocutaneous type 2 NGS Genetic DNA Test gene OCA2 |
| Test Details |
The OCA2 gene is responsible for producing a protein called P protein, which plays a crucial role in the production of melanin, the pigment that gives color to the skin, hair, and eyes. Mutations in the OCA2 gene can lead to a condition known as oculocutaneous albinism type 2 (OCA2). OCA2 is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. People with OCA2 have reduced or absent melanin production, resulting in very light or white hair, skin, and eye color. They also have vision problems, such as reduced visual acuity, nystagmus (involuntary eye movement), and photophobia (sensitivity to light). NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze an individual’s DNA and identify specific genetic mutations or variations. In the case of OCA2, NGS genetic testing can be used to identify mutations in the OCA2 gene that are associated with oculocutaneous albinism type 2. NGS genetic testing for OCA2 can be helpful in confirming a diagnosis, especially in cases where the clinical presentation is not clear or when there is a family history of albinism. It can also provide information about the specific mutations present in an individual, which can be useful for genetic counseling and family planning. It is important to note that genetic testing for OCA2 is typically done in conjunction with a comprehensive clinical evaluation, including a thorough medical history, physical examination, and assessment of visual function. Genetic counseling is also recommended before and after testing to help individuals understand the implications of the test results and make informed decisions. Overall, NGS genetic testing for OCA2 can provide valuable information about an individual’s genetic makeup and help in the diagnosis and management of oculocutaneous albinism type 2. |
