Short Description

NGS genetic DNA test detecets for variant and mutation detection in TYRP1 gene for Albinism, oculocutaneous type 3

PreTest Information

Clinical History of Patient who is going for TYRP1 Gene Albinism, oculocutaneous type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TYRP1 Gene Albinism, oculocutaneous type 3 NGS Genetic DNA Test gene TYRP1

Detail Description

TYRP1 Gene Albinism: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

Albinism is a genetic disorder that affects the production of melanin in the body. It is caused by mutations in various genes, including the TYRP1 gene. TYRP1 gene albinism, also known as oculocutaneous type 3 albinism, is a rare form of albinism that affects the eyes, skin, and hair.

Symptoms of TYRP1 Gene Albinism

The symptoms of TYRP1 gene albinism can vary from person to person, but typically include:

• Pale skin, hair, and eye color
• Sensitivity to sunlight and bright light
• Poor vision, including nystagmus (involuntary eye movements), strabismus (crossed eyes), and photophobia (sensitivity to light)
• Frequent infections of the skin and eyes

Diagnosis of TYRP1 Gene Albinism

TYRP1 gene albinism can be diagnosed through genetic testing. A sample of the patient's DNA is taken and analyzed to identify any mutations in the TYRP1 gene. In addition, a physical exam and eye exam may be conducted to assess the patient's symptoms.

NGS Genetic DNA Test Cost for TYRP1 Gene Albinism

The cost of a NGS genetic DNA test for TYRP1 gene albinism in India is typically around INR 20,000. However, the cost may vary depending on the specific testing facility and any additional tests that may be necessary.

Conclusion

TYRP1 gene albinism is a rare form of albinism that can cause a range of symptoms affecting the skin, hair, and eyes. Diagnosis is typically done through genetic testing, and the cost of NGS genetic DNA testing in India is around INR 20,000. If you or someone you know is experiencing symptoms of TYRP1 gene albinism, it is important to seek medical attention and discuss testing options with a healthcare provider.

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 TYRP1 Gene Albinism, oculocutaneous type 3 NGS Genetic DNA Test