Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC24A5 gene for Albinism, oculocutaneous nonsyndromic

PreTest Information

Clinical History of Patient who is going for SLC24A5 Gene Albinism, oculocutaneous nonsyndromic NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC24A5 Gene Albinism, oculocutaneous nonsyndromic NGS Genetic DNA Test gene SLC24A5

Detail Description

SLC24A5 Gene Albinism: Symptoms, Diagnosis, and Cost of NGS Genetic DNA Test in India

Albinism is a genetic disorder that affects the production of melanin, the pigment responsible for skin, hair, and eye color. It occurs when there is a mutation in one or more genes that regulate melanin production. One such gene is SLC24A5, which plays a crucial role in determining skin color. Mutations in this gene can cause oculocutaneous albinism, a type of albinism that affects the eyes, skin, and hair. In this blog, we will discuss the symptoms, diagnosis, and cost of NGS genetic DNA test for SLC24A5 gene albinism in India.

Symptoms of SLC24A5 Gene Albinism

SLC24A5 gene albinism is a rare genetic disorder that affects people of all races and ethnicities. The symptoms of this condition include:

• Pale skin, hair, and eyes
• Light sensitivity and photophobia
• Nystagmus (involuntary eye movements)
• Poor eyesight and reduced visual acuity
• Crossed or wandering eyes
• Squinting or tilting the head to see better
• Increased susceptibility to skin cancer and sunburn

These symptoms can vary in severity, depending on the type of albinism and the individual's genetic makeup. In some cases, albinism can also cause developmental delays, intellectual disability, and other health problems.

Diagnosis of SLC24A5 Gene Albinism

SLC24A5 gene albinism can be diagnosed through a genetic DNA test that analyzes the individual's DNA for mutations in the SLC24A5 gene. This test can be performed using Next-Generation Sequencing (NGS) technology, which allows for rapid and accurate sequencing of the entire gene.

The NGS genetic DNA test for SLC24A5 gene albinism can be ordered by a healthcare provider or genetic counselor. The test involves taking a small sample of blood or saliva from the individual, which is then sent to a laboratory for analysis. The results of the test can help diagnose the condition and determine the type of albinism present.

Cost of NGS Genetic DNA Test for SLC24A5 Gene Albinism in India

The cost of NGS genetic DNA test for SLC24A5 gene albinism in India can vary depending on the laboratory and healthcare provider. On average, the cost of the test can range from INR 20,000 to INR 30,000. However, some laboratories may offer the test at a lower or higher cost.

It is important to note that the cost of the test may not be covered by insurance, and individuals may need to pay out-of-pocket for the test. However, some healthcare providers and laboratories may offer financial assistance or payment plans to help make the test more affordable.

Conclusion

SLC24A5 gene albinism is a rare genetic disorder that can cause a range of symptoms, including pale skin, hair, and eyes, light sensitivity, and poor eyesight. The condition can be diagnosed through a genetic DNA test that analyzes the SLC24A5 gene for mutations using NGS technology. The cost of the test can vary depending on the laboratory and healthcare provider, but on average, it can range from INR 20,000 to INR 30,000. If you or someone you know is experiencing symptoms of albinism, it is important to speak with a healthcare provider or genetic counselor to determine if genetic testing is necessary.

At DNA Labs India, we offer a range of genetic DNA tests, including NGS genetic DNA tests for SLC24A5 gene albinism. Our team of experienced genetic counselors and laboratory professionals can help you understand your test results and provide guidance on next steps. Contact us today to learn more.