Short Description

NGS genetic DNA test detecets for variant and mutation detection in CYP1B1 gene for Glaucoma, primary type 3A

PreTest Information

Clinical History of Patient who is going for CYP1B1 Gene Glaucoma, primary type 3A NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CYP1B1 Gene Glaucoma, primary type 3A NGS Genetic DNA Test gene CYP1B1

Detail Description

CYP1B1 Gene Glaucoma: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Glaucoma is a group of eye diseases that can cause vision loss and blindness if left untreated. Primary congenital glaucoma (PCG) is a rare form of glaucoma that occurs in infants and young children. It is caused by a genetic mutation in the CYP1B1 gene. This gene provides instructions for making a protein that plays a role in the development and maintenance of the eye's drainage system. Mutations in the CYP1B1 gene can disrupt the normal development of the eye's drainage system, leading to increased pressure inside the eye and damage to the optic nerve.

Symptoms of CYP1B1 Gene Glaucoma

The symptoms of CYP1B1 gene glaucoma can vary depending on the severity of the disease. In some cases, infants are born with a cloudy cornea that makes it difficult for light to enter the eye. Other symptoms may include:

• Enlarged eyes
• Sensitivity to light
• Tearing
• Redness in the eye
• Difficulty seeing objects in the distance
• Difficulty adjusting to changes in lighting

Diagnosis of CYP1B1 Gene Glaucoma

CYP1B1 gene glaucoma is typically diagnosed in infants and young children. A thorough eye exam by a pediatric ophthalmologist is necessary to diagnose the condition. The exam may include:

• Measurement of intraocular pressure
• Examination of the optic nerve
• Examination of the cornea
• Visual acuity testing

NGS Genetic DNA Test for CYP1B1 Gene Glaucoma

Next-generation sequencing (NGS) is a powerful tool for diagnosing genetic diseases like CYP1B1 gene glaucoma. NGS technology can sequence large amounts of DNA quickly and accurately, allowing for the identification of disease-causing mutations in the CYP1B1 gene. The cost of an NGS genetic DNA test for CYP1B1 gene glaucoma is INR 20,000.

Conclusion

CYP1B1 gene glaucoma is a rare form of glaucoma that is caused by a genetic mutation. Symptoms of the condition can vary, but typically include enlarged eyes, sensitivity to light, and tearing. Diagnosis of CYP1B1 gene glaucoma requires a thorough eye exam by a pediatric ophthalmologist. Next-generation sequencing (NGS) is a powerful tool for diagnosing genetic diseases like CYP1B1 gene glaucoma. The cost of an NGS genetic DNA test for CYP1B1 gene glaucoma is INR 20,000.

If you suspect that your child may have CYP1B1 gene glaucoma, it is important to seek medical attention immediately. Early diagnosis and treatment can help prevent vision loss and blindness.

Contact DNA Labs India today to learn more about our NGS genetic DNA test for CYP1B1 gene glaucoma and to schedule an appointment with one of our experienced genetic counselors.