Short Description

NGS genetic DNA test detecets for variant and mutation detection in GUCA1A gene for Cone-rod dystrophy type 14

PreTest Information

Clinical History of Patient who is going for GUCA1A Gene Cone-rod dystrophy type 14 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GUCA1A Gene Cone-rod dystrophy type 14 NGS Genetic DNA Test gene GUCA1A

Detail Description

GUCA1A Gene Cone-rod dystrophy type 14 NGS Genetic DNA Test

Cone-rod dystrophy type 14 is a rare genetic disorder that affects the eyes. It is caused by mutations in the GUCA1A gene, which provides instructions for making a protein that is important for the normal function of cells in the retina. Cone-rod dystrophy type 14 is characterized by the progressive loss of cone and rod cells in the retina, leading to vision loss.

Symptoms of Cone-rod dystrophy type 14

People with Cone-rod dystrophy type 14 typically begin to experience vision problems in their teens or twenties. The first symptom is usually a loss of color vision, followed by a decreased ability to see in bright light. As the disease progresses, night vision also becomes impaired. Other symptoms may include:

• Blurred vision
• Difficulty reading
• Difficulty recognizing faces
• Peripheral vision loss
• Nystagmus

Diagnosis of Cone-rod dystrophy type 14

Cone-rod dystrophy type 14 is diagnosed through a comprehensive eye exam, including a visual acuity test, dilated eye exam, and visual field test. Genetic testing may also be used to confirm the diagnosis and identify the specific mutation in the GUCA1A gene.

NGS Genetic DNA Test for Cone-rod dystrophy type 14

NGS Genetic DNA Test is a state-of-the-art genetic test that can identify mutations in the GUCA1A gene associated with Cone-rod dystrophy type 14. This test analyzes a person's DNA to detect changes in the genetic code that may be responsible for the disease. The test is highly accurate and can provide a definitive diagnosis of Cone-rod dystrophy type 14.

Cost of NGS Genetic DNA Test for Cone-rod dystrophy type 14

The cost of NGS Genetic DNA Test for Cone-rod dystrophy type 14 in India is INR 20,000. This includes the cost of the test itself, as well as any necessary pre-test counseling and post-test genetic counseling.

Conclusion

Cone-rod dystrophy type 14 is a rare genetic disorder that can cause progressive vision loss. Genetic testing can help to identify the specific mutation in the GUCA1A gene associated with the disease, allowing for early diagnosis and treatment. The NGS Genetic DNA Test for Cone-rod dystrophy type 14 is a highly accurate and reliable test that can provide a definitive diagnosis. If you or someone you know is experiencing symptoms of Cone-rod dystrophy type 14, talk to a genetic counselor or healthcare provider about genetic testing.

At DNA Labs India, we offer a wide range of genetic tests, including the NGS Genetic DNA Test for Cone-rod dystrophy type 14. Contact us today to learn more about our genetic testing services.

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Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for GUCA1A Gene Cone-rod dystrophy type 14 NGS Genetic DNA Test