Short Description

NGS genetic DNA test detecets for variant and mutation detection in CRYBB3 gene for Cataract, autosomal recessive congenital nuclear type 2

PreTest Information

Clinical History of Patient who is going for CRYBB3 Gene Cataract, autosomal recessive congenital nuclear type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CRYBB3 Gene Cataract, autosomal recessive congenital nuclear type 2 NGS Genetic DNA Test gene CRYBB3

Detail Description

CRYBB3 Gene Cataract: Understanding Autosomal Recessive Congenital Nuclear Type 2 and NGS Genetic DNA Test

CRYBB3 Gene Cataract is a type of cataract that is caused by mutations in the CRYBB3 gene. This type of cataract is autosomal recessive congenital nuclear type 2, which means that it is inherited from both parents who are carriers of the mutated gene. The CRYBB3 gene provides instructions for making a protein called beta-B3-crystallin, which is essential for the development and maintenance of the lens in the eye.

Individuals with mutations in the CRYBB3 gene may experience clouding of the lens in the eye, which can cause blurred or distorted vision. The severity of symptoms can vary widely, and some individuals may not experience any symptoms at all.

Symptoms of CRYBB3 Gene Cataract

The symptoms of CRYBB3 Gene Cataract may include:

• Clouding or opacification of the lens in the eye
• Blurred or distorted vision
• Reduced visual acuity
• Increased sensitivity to glare or light
• Difficulty seeing at night or in low light conditions

Diagnosis of CRYBB3 Gene Cataract

Crybb3 gene cataract is diagnosed by a thorough eye exam by an ophthalmologist. The diagnosis is confirmed by genetic testing, which can detect mutations in the CRYBB3 gene. Genetic testing is done through a blood or saliva sample and is available through DNA Labs India.

NGS Genetic DNA Test for CRYBB3 Gene Cataract

Next-generation sequencing (NGS) is a powerful genetic testing technology that can identify mutations in multiple genes at once. DNA Labs India offers an NGS genetic DNA test for CRYBB3 Gene Cataract, which can detect mutations in the CRYBB3 gene as well as other genes associated with inherited cataracts.

Cost of NGS Genetic DNA Test for CRYBB3 Gene Cataract

The cost of the NGS genetic DNA test for CRYBB3 Gene Cataract is INR 20,000. This includes the cost of the test kit, sample collection, and genetic analysis. Results are typically available within 2-4 weeks.

Conclusion

CRYBB3 Gene Cataract is a type of cataract that is caused by mutations in the CRYBB3 gene. This type of cataract is autosomal recessive congenital nuclear type 2, which means that it is inherited from both parents who are carriers of the mutated gene. The symptoms of CRYBB3 Gene Cataract include clouding or opacification of the lens in the eye, blurred or distorted vision, reduced visual acuity, increased sensitivity to glare or light, and difficulty seeing at night or in low light conditions. Genetic testing is available through DNA Labs India, which offers an NGS genetic DNA test for CRYBB3 Gene Cataract at a cost of INR 20,000.

If you or a loved one is experiencing symptoms of CRYBB3 Gene Cataract, it is important to seek medical attention and consider genetic testing to determine the underlying cause of the condition. With early diagnosis and treatment, it is possible to manage the symptoms of CRYBB3 Gene Cataract and maintain good eye health.

For more information about CRYBB3 Gene Cataract and genetic testing, contact DNA Labs India today.

Mutations in the CRYBB3 gene have been associated with a specific type of autosomal recessive congenital cataract known as Autosomal Recessive Congenital Nuclear Cataract Type 2. Cataracts are characterized by the clouding of the lens in the eye, leading to visual impairment.