Short Description

NGS genetic DNA test detecets for variant and mutation detection in TYR gene for Albinism, oculocutaneous type 1A

PreTest 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

Detail Description

TYR Gene Albinism, Oculocutaneous Type 1A NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Albinism is a genetic disorder that causes a lack of melanin pigment in the skin, hair, and eyes. There are several types of albinism, and one of them is oculocutaneous type 1A, which is caused by mutations in the TYR gene. This gene provides instructions for making an enzyme called tyrosinase, which plays a crucial role in the production of melanin.

If you suspect that you or someone you know may have oculocutaneous type 1A albinism, it is important to get a proper diagnosis. DNA Labs India offers a NGS Genetic DNA Test that can identify mutations in the TYR gene and provide a definitive diagnosis.

Symptoms of Oculocutaneous Type 1A Albinism

The symptoms of oculocutaneous type 1A albinism can vary from person to person, but they generally include:

• Pale skin
• White or light-colored hair
• Light-colored eyes
• Nystagmus (involuntary eye movements)
• Photophobia (sensitivity to light)
• Poor eyesight

In addition to these physical symptoms, people with oculocutaneous type 1A albinism may also be at an increased risk of developing skin cancer and vision problems.

Diagnosis of Oculocutaneous Type 1A Albinism

A proper diagnosis of oculocutaneous type 1A albinism requires genetic testing to identify mutations in the TYR gene. DNA Labs India offers a NGS Genetic DNA Test that can detect mutations in this gene with a high degree of accuracy.

The test is simple and non-invasive. A small sample of blood or saliva is collected and sent to the laboratory for analysis. Results are typically available within a few weeks.

NGS Genetic DNA Test Cost

The cost of the NGS Genetic DNA Test for oculocutaneous type 1A albinism is INR 20000. This includes all laboratory fees and a detailed report of the test results.

Conclusion

If you or someone you know is experiencing symptoms of oculocutaneous type 1A albinism, it is important to get a proper diagnosis. DNA Labs India offers a NGS Genetic DNA Test that can identify mutations in the TYR gene and provide a definitive diagnosis. The test is simple, non-invasive, and costs INR 20000. Contact DNA Labs India today to schedule your test.

Remember, early diagnosis and treatment can help prevent serious complications and improve quality of life.

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