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Accurate Test Results for TYR Gene Albinism, oculocutaneous type 1A NGS Genetic DNA Test
TYR Gene Albinism, oculocutaneous type 1A NGS Genetic DNA Test Cost 20000 Rs
TYR Gene Albinism, oculocutaneous type 1A NGS Genetic DNA Test Details
TYR Gene Albinism, Oculocutaneous Type 1A NGS Genetic DNA Test
Albinism is a rare genetic disorder that affects the pigmentation of the skin, hair, and eyes. There are different types of albinism, and one of them is oculocutaneous type 1A. This type of albinism is caused by mutations in the TYR gene, which is responsible for producing an enzyme called tyrosinase. Tyrosinase is essential for the production of melanin, which gives color to the skin, hair, and eyes.
Symptoms of Oculocutaneous Type 1A Albinism
The symptoms of oculocutaneous type 1A albinism include:
- Pale skin
- Pale hair
- Pale eyes
- Increased sensitivity to light
- Reduced visual acuity
- Nystagmus (involuntary eye movements)
Diagnosis of Oculocutaneous Type 1A Albinism
The diagnosis of oculocutaneous type 1A albinism is usually based on physical examination and the patient's medical history. An eye examination can also help diagnose the condition, as it can reveal the characteristic eye abnormalities associated with albinism. Genetic testing can confirm the diagnosis and identify the specific mutation in the TYR gene responsible for the condition.
NGS Genetic DNA Test for TYR Gene Albinism
NGS (Next Generation Sequencing) is a powerful genetic testing technology that can analyze multiple genes simultaneously. The NGS genetic DNA test for TYR gene albinism can detect mutations in the TYR gene that cause oculocutaneous type 1A albinism. The test is performed on a blood or saliva sample, and the results can be obtained within a few weeks.
Cost of NGS Genetic DNA Test for TYR Gene Albinism in India
The cost of the NGS genetic DNA test for TYR gene albinism in India is around INR 20,000. The cost may vary depending on the laboratory and the specific test ordered.
Conclusion
Oculocutaneous type 1A albinism is a rare genetic disorder that affects the pigmentation of the skin, hair, and eyes. The condition is caused by mutations in the TYR gene, which can be detected by the NGS genetic DNA test. Early diagnosis and genetic testing can help patients and their families understand the condition better and plan appropriate treatment and management strategies. If you suspect that you or your child may have oculocutaneous type 1A albinism, talk to your doctor about genetic testing options.
At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic DNA tests for various genetic disorders. Our team of expert geneticists and counselors can help you understand the results of your test and provide guidance on appropriate next steps. Contact us today to learn more.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for TYR Gene Albinism, oculocutaneous type 1A NGS Genetic DNA Test
