Short Description

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

PreTest 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

Detail Description

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

Albinism is a genetic disorder that affects the skin, hair, and eyes. It is caused by a mutation in one of several genes that are involved in the production of melanin, the pigment that gives color to these areas of the body. One of these genes is the TYR gene, which is involved in the production of an enzyme called tyrosinase. When this gene is mutated, it can lead to a form of albinism known as oculocutaneous type 1B.

Symptoms of Oculocutaneous Type 1B Albinism

The symptoms of oculocutaneous type 1B albinism are similar to those of other forms of albinism. They include:

• Pale skin and hair
• Light-colored eyes
• Increased sensitivity to light
• Poor vision, including nystagmus (involuntary eye movements) and strabismus (misalignment of the eyes)

People with oculocutaneous type 1B albinism may also be at increased risk for skin cancer, as their skin lacks the protective pigment that normally shields it from the harmful effects of the sun.

Diagnosis of Oculocutaneous Type 1B Albinism

Oculocutaneous type 1B albinism is typically diagnosed based on a person's symptoms and a physical examination. An eye exam can help to determine the extent of vision problems, while a skin biopsy may be used to confirm the absence of melanin in the skin.

Tyr Gene Albinism, Oculocutaneous Type 1B NGS Genetic DNA Test

A genetic test can also be used to diagnose oculocutaneous type 1B albinism. The TYR gene is one of the genes that may be tested for mutations using next-generation sequencing (NGS) technology.

NGS is a powerful tool that can analyze large amounts of genetic information quickly and accurately. This makes it an ideal method for detecting mutations in the TYR gene that may be responsible for oculocutaneous type 1B albinism.

Cost of Tyr Gene Albinism, Oculocutaneous Type 1B NGS Genetic DNA Test in India

The cost of the TYR gene albinism, oculocutaneous type 1B NGS genetic DNA test in India is approximately INR 20,000. This cost may vary depending on the specific laboratory or clinic where the test is performed.

Conclusion

Oculocutaneous type 1B albinism is a genetic disorder that affects the skin, hair, and eyes. It is caused by a mutation in the TYR gene, which can be detected using NGS genetic DNA testing. If you or a loved one is experiencing symptoms of oculocutaneous type 1B albinism, it is important to seek medical attention and consider genetic testing to confirm a diagnosis.

At DNA Labs India, we offer a range of genetic testing services, including NGS DNA testing for oculocutaneous type 1B albinism. Contact us today to learn more about our services and how we can help you get the answers you need.

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 1B NGS Genetic DNA Test