Short Description

NGS genetic DNA test detecets for variant and mutation detection in CYP4V2 gene for Bietti crystalline corneoretinal dystrophy

PreTest Information

Clinical History of Patient who is going for CYP4V2 Gene Bietti crystalline corneoretinal dystrophy NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CYP4V2 Gene Bietti crystalline corneoretinal dystrophy NGS Genetic DNA Test gene CYP4V2

Detail Description

CYP4V2 Gene Bietti Crystalline Corneoretinal Dystrophy NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Bietti crystalline corneoretinal dystrophy (BCCD) is a rare, inherited eye disorder that affects the retina and cornea. The disorder is caused by mutations in the CYP4V2 gene. The CYP4V2 gene provides instructions for making an enzyme that is involved in the breakdown of fatty acids. Mutations in this gene lead to the accumulation of fatty acids in the retina and cornea, which can cause damage to these tissues over time.

Symptoms of Bietti Crystalline Corneoretinal Dystrophy

The symptoms of Bietti crystalline corneoretinal dystrophy usually start in early adulthood and include:

• Difficulty seeing in dim light or at night
• Loss of peripheral vision
• Blurred vision
• Appearance of small, yellow-white crystals in the retina and cornea

Diagnosis of Bietti Crystalline Corneoretinal Dystrophy

Bietti crystalline corneoretinal dystrophy can be diagnosed through a comprehensive eye exam, which may include:

• Visual acuity test to measure how well you can see at various distances
• Slit-lamp exam to examine the front of the eye and the crystalline deposits
• Dilated eye exam to examine the retina and optic nerve
• Electroretinogram to measure the electrical response of the retina to light

A genetic test can also be done to confirm a diagnosis of Bietti crystalline corneoretinal dystrophy. The test analyzes the CYP4V2 gene for mutations that are known to cause the disorder.

NGS Genetic DNA Test Cost for Bietti Crystalline Corneoretinal Dystrophy

The cost of an NGS genetic DNA test for Bietti crystalline corneoretinal dystrophy in India is approximately INR 20,000. This type of test uses next-generation sequencing technology to analyze multiple genes at once, including the CYP4V2 gene, to identify mutations that may be causing the disorder.

Conclusion

Bietti crystalline corneoretinal dystrophy is a rare genetic disorder that can cause vision loss and damage to the retina and cornea. Genetic testing can help confirm a diagnosis of Bietti crystalline corneoretinal dystrophy and identify mutations in the CYP4V2 gene that may be causing the disorder. The cost of an NGS genetic DNA test for Bietti crystalline corneoretinal dystrophy in India is approximately INR 20,000.

At DNA Labs India, we offer NGS genetic DNA testing for Bietti crystalline corneoretinal dystrophy and other genetic disorders. Our tests are conducted in a state-of-the-art laboratory using the latest technology and techniques. Contact us today to learn more about our genetic testing services.