Short Description

NGS genetic DNA test detecets for variant and mutation detection in OCA2 gene for Albinism, oculocutaneous type 2

PreTest 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

Detail Description

OCA2 Gene Albinism, Oculocutaneous Type 2 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Albinism is a genetic disorder that affects the production of melanin, the pigment responsible for the color of our skin, hair, and eyes. Oculocutaneous Albinism type 2 (OCA2) is a type of albinism that affects the eyes, hair, and skin. People with OCA2 have little or no melanin production in these areas, which results in pale skin, white or light-colored hair, and vision problems.

What is the OCA2 gene?

The OCA2 gene provides instructions for making a protein called P protein, which is involved in the production of melanin. Mutations in the OCA2 gene can affect the production of P protein, leading to reduced melanin production and the development of OCA2.

What are the symptoms of OCA2?

The symptoms of OCA2 can vary from person to person, but they typically include:

• Pale skin
• Light-colored hair
• Light-colored eyes
• Vision problems, including nystagmus (involuntary eye movement), reduced visual acuity, and sensitivity to light

How is OCA2 diagnosed?

OCA2 can be diagnosed through genetic testing, which involves analyzing a person's DNA for mutations in the OCA2 gene. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once, making it a quick and efficient way to diagnose OCA2.

What is the cost of an OCA2 NGS genetic DNA test?

The cost of an OCA2 NGS genetic DNA test in India is typically around INR 20,000. However, the cost may vary depending on the laboratory or healthcare provider performing the test.

Conclusion

OCA2 is a genetic disorder that affects the production of melanin, resulting in pale skin, light-colored hair, and vision problems. OCA2 can be diagnosed through genetic testing, including NGS genetic DNA testing, which is a quick and efficient way to analyze multiple genes at once. The cost of an OCA2 NGS genetic DNA test in India is typically around INR 20,000. If you suspect that you or a loved one may have OCA2, it is important to speak with a healthcare provider or genetic counselor to discuss testing options and treatment options.

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 OCA2 Gene Albinism, oculocutaneous type 2 NGS Genetic DNA Test