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Accurate Test Results for CRYAA Gene Cataract, autosomal recessive congenital type 1 NGS Genetic DNA Test
CRYAA Gene Cataract, autosomal recessive congenital type 1 NGS Genetic DNA Test Cost 20000 Rs
CRYAA Gene Cataract, autosomal recessive congenital type 1 NGS Genetic DNA Test Details
CRYAA Gene Cataract Genetic DNA Test
About CRYAA Gene Cataract
CRYAA Gene Cataract, also known as autosomal recessive congenital type 1 cataract, is a rare genetic disorder that affects the lenses of the eyes. It is caused by a mutation in the CRYAA gene, which is responsible for producing a protein that helps maintain the transparency of the lens. Without this protein, the lens becomes cloudy, resulting in vision impairment and eventually blindness.
Symptoms of CRYAA Gene Cataract
The symptoms of CRYAA Gene Cataract usually become noticeable in infancy or early childhood. They include:
- Cloudy or opaque lenses
- Blurred vision
- Nearsightedness
- Abnormal eye movements
- Difficulty seeing in low light
Diagnosis of CRYAA Gene Cataract
Diagnosis of CRYAA Gene Cataract typically involves a comprehensive eye examination by an ophthalmologist. This may include:
- Visual acuity test
- Slit-lamp examination
- Dilated eye exam
- Family history evaluation
If CRYAA Gene Cataract is suspected, genetic testing may be recommended to confirm the diagnosis.
NGS Genetic DNA Test for CRYAA Gene Cataract
DNA Labs India offers a Next Generation Sequencing (NGS) Genetic DNA Test for CRYAA Gene Cataract. This test analyzes the CRYAA gene to detect any mutations that may be causing the cataracts. The test requires a small blood or saliva sample and results are typically available within 2-3 weeks.
Cost of CRYAA Gene Cataract Genetic DNA Test
The cost of the NGS Genetic DNA Test for CRYAA Gene Cataract offered by DNA Labs India is INR 20,000.
Contact DNA Labs India today to learn more about our genetic testing services.
Phone: +91-11-40849842
Email: info@dnamyway.com
Mutations in the CRYAA gene have been associated with a specific type of autosomal recessive congenital cataract, known as Cataract, Autosomal Recessive Congenital Type 1. Congenital cataracts are clouding of the lens of the eye that is present from birth and can significantly impact vision.
CRYAA (Crystallin Alpha A) is a gene that encodes a crystallin protein, which is a major structural component of the lens. The lens of the eye is normally transparent, allowing light to pass through and focus on the retina. Mutations in the CRYAA gene can disrupt the structure and function of the crystallin protein, leading to the development of cataracts.
Next-Generation Sequencing (NGS) Genetic DNA testing involves analyzing an individual's DNA to identify mutations or variations in specific genes associated with certain conditions, including autosomal recessive congenital cataracts due to CRYAA gene mutations.
The testing process generally includes:
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Sample Collection: A sample of the individual's DNA is collected, usually through a blood sample or saliva.
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DNA Sequencing: NGS technology is used to analyze the DNA sample. The genetic code is read to identify mutations or variations in the CRYAA gene.
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Data Analysis: The genetic information is compared to reference sequences to detect deviations or mutations.
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Results Interpretation: Genetic experts interpret the results to determine whether mutations in the CRYAA gene associated with congenital cataract type 1 are present.
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Clinical Assessment: Genetic results are combined with clinical evaluation and other diagnostic tests to confirm the diagnosis of congenital cataract type 1 and guide treatment and management decisions.
Congenital cataracts can cause significant visual impairment and affect a person's quality of life. If you or someone you know is suspected of having congenital cataract type 1 due to CRYAA gene mutations, consulting with a pediatric ophthalmologist or healthcare provider who specializes in eye disorders is recommended. They can guide you through the decision-making process regarding genetic testing, provide information about the potential implications of the results, and offer recommendations for managing the condition and providing appropriate eye care. Early intervention, such as cataract surgery, may be necessary to improve vision and prevent further visual impairment.
