Short Description

NGS genetic DNA test detecets for variant and mutation detection in ABCA4 gene for Cone-rod dystrophy type 3

PreTest Information

Clinical History of Patient who is going for ABCA4 Gene Cone-rod dystrophy type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ABCA4 Gene Cone-rod dystrophy type 3 NGS Genetic DNA Test gene ABCA4

Detail Description

ABCA4 Gene Cone-rod Dystrophy Type 3 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Cone-rod dystrophy is a type of eye disorder that affects the retina, which is responsible for detecting light and sending signals to the brain. This disorder can cause vision loss over time, and it can be caused by mutations in several different genes. One of these genes is called ABCA4, and mutations in this gene can cause cone-rod dystrophy type 3.

Symptoms of Cone-Rod Dystrophy Type 3

The symptoms of cone-rod dystrophy type 3 can vary from person to person, but they typically include:

• Difficulty seeing in bright light (photophobia)
• Loss of color vision
• Difficulty seeing fine details
• Loss of peripheral vision
• Night blindness

These symptoms usually begin in childhood or adolescence and worsen over time. In severe cases, people with cone-rod dystrophy type 3 may become legally blind.

Diagnosis of Cone-Rod Dystrophy Type 3

Diagnosing cone-rod dystrophy type 3 usually involves a comprehensive eye exam, which may include:

• Visual acuity test
• Color vision test
• Visual field test
• Electroretinogram (ERG)

If cone-rod dystrophy type 3 is suspected, genetic testing may be recommended to confirm the diagnosis. This involves analyzing a sample of DNA to look for mutations in the ABCA4 gene.

ABCA4 Gene Cone-Rod Dystrophy Type 3 NGS Genetic DNA Test

The ABCA4 gene cone-rod dystrophy type 3 NGS genetic DNA test is a type of genetic testing that can be used to diagnose cone-rod dystrophy caused by mutations in the ABCA4 gene. This test uses next-generation sequencing (NGS) technology to analyze a sample of DNA and identify any mutations in the ABCA4 gene.

This test is typically ordered by a healthcare provider, such as an ophthalmologist or genetic counselor. The cost of the test is typically around INR 20000.

Conclusion

Cone-rod dystrophy type 3 is a rare eye disorder that can cause vision loss over time. If you or a loved one is experiencing symptoms of cone-rod dystrophy type 3, it is important to see a healthcare provider for a diagnosis. Genetic testing, such as the ABCA4 gene cone-rod dystrophy type 3 NGS genetic DNA test, can help confirm the diagnosis and guide treatment options.

At DNA Labs India, we offer a wide range of genetic testing services, including the ABCA4 gene cone-rod dystrophy type 3 NGS genetic DNA test. Contact us today to learn more about our services and how we can help you.

Testing for the ABCA4 gene, specifically for Cone-Rod Dystrophy Type 3, involves using next-generation sequencing (NGS) to analyze an individual's DNA for variations or mutations in the ABCA4 gene. Cone-rod dystrophy (CRD) is a group of inherited eye disorders that primarily affect the light-sensing cells (cones and rods) in the retina. Mutations in the ABCA4 gene are associated with various forms of CRD.