GUCA1A Gene Cone-rod dystrophy type 14 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test Type: Ophthalmology Disorders
Doctor: Ophthalmologist
Test Department: Genetics
Pre Test 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
Test Details:
Cone-rod dystrophy type 14 (CORD14) is a rare genetic disorder that affects the retina of the eye. It is caused by mutations in the GUCA1A gene, which encodes for a protein called guanylate cyclase activator 1A. This protein is involved in the regulation of cyclic GMP, a molecule that is important for the function of photoreceptor cells in the retina.
NGS (next-generation sequencing) genetic testing can be used to identify mutations in the GUCA1A gene that cause CORD14. This type of testing involves sequencing large amounts of DNA in a short amount of time, allowing for the rapid identification of genetic mutations.
Individuals with CORD14 typically experience progressive vision loss, with symptoms starting in childhood or early adulthood. The condition primarily affects the cone cells in the retina, which are responsible for color vision and visual acuity. As the disease progresses, individuals may also experience night blindness and peripheral vision loss.
There is currently no cure for CORD14, but there are treatments available to manage symptoms and slow the progression of the disease. Genetic testing can help individuals and their families understand the cause of their vision loss and make informed decisions about their healthcare.
Test Name | GUCA1A Gene Cone-rod dystrophy type 14 Genetic Test |
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Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Ophthalmology Disorders |
Doctor | Ophthalmologist |
Test Department: | Genetics |
Pre Test 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 |
Test Details |
Cone-rod dystrophy type 14 (CORD14) is a rare genetic disorder that affects the retina of the eye. It is caused by mutations in the GUCA1A gene, which encodes for a protein called guanylate cyclase activator 1A. This protein is involved in the regulation of cyclic GMP, a molecule that is important for the function of photoreceptor cells in the retina. NGS (next-generation sequencing) genetic testing can be used to identify mutations in the GUCA1A gene that cause CORD14. This type of testing involves sequencing large amounts of DNA in a short amount of time, allowing for the rapid identification of genetic mutations. Individuals with CORD14 typically experience progressive vision loss, with symptoms starting in childhood or early adulthood. The condition primarily affects the cone cells in the retina, which are responsible for color vision and visual acuity. As the disease progresses, individuals may also experience night blindness and peripheral vision loss. There is currently no cure for CORD14, but there are treatments available to manage symptoms and slow the progression of the disease. Genetic testing can help individuals and their families understand the cause of their vision loss and make informed decisions about their healthcare. |