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GUCA1A Gene Cone-Rod Dystrophy Type 14 Genetic Test

Name: GUCA1A Gene Cone-Rod Dystrophy Type 14 Genetic Test
SKU: TEST-960
Price: 4400 AED
Availability: InStock

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The GUCA1A gene is linked to Cone-Rod Dystrophy Type 14, a rare genetic disorder that affects the retina’s ability to respond to light, leading to progressive vision loss. This condition is inherited in an autosomal dominant manner, meaning a mutation in just one copy of the gene can cause the disorder. The GUCA1A Gene Cone-Rod Dystrophy Type 14 Genetic Test is a specialized diagnostic tool designed to identify mutations in the GUCA1A gene that are responsible for the condition. This test is crucial for confirming the diagnosis, understanding the risk of passing the condition to offspring, and guiding potential treatment and management strategies.

Performed at DNA Labs UAE, a leading facility in genetic testing, the test involves analyzing the patient’s DNA, extracted from a blood sample or cheek swab, to look for specific genetic changes in the GUCA1A gene. The process is comprehensive, ensuring high accuracy in detecting mutations associated with Cone-Rod Dystrophy Type 14.

The cost of the GUCA1A Gene Cone-Rod Dystrophy Type 14 Genetic Test at DNA Labs UAE is 4400 AED. This price includes the full process of collecting the sample, conducting the genetic analysis, and providing a detailed report of the findings. The test is a valuable resource for individuals with a family history of the disorder or those experiencing symptoms related to vision loss, offering a clear path to understanding their genetic health and making informed decisions about their future and that of their family.

Description

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
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.