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C21orf2 Gene Cone-rod dystrophy C21orf2 related Genetic Test

4,400 د.إ

-21%

The C21orf2 gene plays a significant role in the health and functionality of the retina, particularly influencing the development of cone-rod dystrophy, a genetic disorder that affects the eyes. Cone-rod dystrophy is characterized by the progressive loss of vision, starting with the deterioration of cone cells (responsible for color vision and visual acuity) and followed by rod cells (which enable low-light vision). Mutations in the C21orf2 gene have been identified as a causative factor for this condition, making genetic testing a valuable tool for diagnosis and understanding the risk of inheritance.

DNA Labs UAE offers a specialized genetic test aimed at detecting mutations in the C21orf2 gene, providing essential information for individuals with a family history of cone-rod dystrophy or those experiencing symptoms related to the disorder. The test is a critical step in the diagnosis process, offering insights that can guide treatment and management decisions, as well as inform family planning considerations.

The cost of the C21orf2 gene-related cone-rod dystrophy genetic test at DNA Labs UAE is 4400 AED. This investment covers the collection of a DNA sample, usually through a blood draw or cheek swab, and its subsequent analysis in the laboratory. The process is designed to be as non-invasive and straightforward as possible, with results typically available within a few weeks. The outcome of the test can provide individuals and their healthcare providers with crucial information to better understand the condition, its progression, and potential interventions to manage symptoms and improve quality of life.

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C21orf2 Gene Cone-rod dystrophy – A Genetic Test

Test Name: C21orf2 Gene Cone-rod dystrophy C21orf2 related 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 C21orf2 Gene Cone-rod dystrophy, C21orf2 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with C21orf2 Gene Cone-rod dystrophy, C21orf2 related NGS Genetic DNA Test gene C21orf2

What is Cone-rod dystrophy (CRD)?

Cone-rod dystrophy (CRD) is a rare genetic disorder that affects the retina, the part of the eye responsible for detecting light and transmitting visual information to the brain. CRD is characterized by progressive vision loss, beginning with color vision defects and central visual acuity loss, followed by peripheral vision loss.

The C21orf2 Gene and CRD

The C21orf2 gene is associated with CRD, specifically a form known as C21orf2-related CRD. This gene provides instructions for making a protein called FAM161A, which is involved in the function of photoreceptor cells in the retina.

NGS Genetic Testing for C21orf2-related CRD

NGS genetic testing for C21orf2-related CRD involves analyzing the DNA sequence of the C21orf2 gene to identify any genetic variations that may be causing the disorder. This can help with diagnosis and can also provide information about the inheritance pattern of the disorder, which can be useful for family planning.

Treatment and Future Research

Treatment for CRD is currently limited, and mainly focuses on supportive measures such as visual aids and adaptive technologies. However, ongoing research into the genetics and underlying mechanisms of the disorder may lead to new treatment options in the future.

For individuals concerned about Cone-rod dystrophy and its genetic implications, the C21orf2 Gene Cone-rod dystrophy C21orf2 related Genetic Test is available at DNA Labs UAE. The test involves a simple blood or DNA sample and utilizes NGS Technology for analysis. The test is conducted by experienced Ophthalmologists in the Genetics department. The cost of the test is 4400.0 AED and the report will be delivered within 3 to 4 weeks.

It is recommended to provide the clinical history of the patient and undergo a genetic counselling session to draw a pedigree chart of family members affected with C21orf2 Gene Cone-rod dystrophy before taking the test. This information can aid in the accurate diagnosis and understanding of the inheritance pattern.

Stay informed about the latest advancements in genetic testing and research for Cone-rod dystrophy by following DNA Labs UAE. Genetic testing can provide valuable insights for individuals and families affected by this rare genetic disorder.

Test Name C21orf2 Gene Cone-rod dystrophy C21orf2 related 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 C21orf2 Gene Cone-rod dystrophy, C21orf2 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with C21orf2 Gene Cone-rod dystrophy, C21orf2 related NGS Genetic DNA Test gene C21orf2
Test Details

Cone-rod dystrophy (CRD) is a rare genetic disorder that affects the retina, the part of the eye responsible for detecting light and transmitting visual information to the brain. CRD is characterized by progressive vision loss, beginning with color vision defects and central visual acuity loss, followed by peripheral vision loss.

The C21orf2 gene is associated with CRD, specifically a form known as C21orf2-related CRD. This gene provides instructions for making a protein called FAM161A, which is involved in the function of photoreceptor cells in the retina.

NGS genetic testing for C21orf2-related CRD involves analyzing the DNA sequence of the C21orf2 gene to identify any genetic variations that may be causing the disorder. This can help with diagnosis and can also provide information about the inheritance pattern of the disorder, which can be useful for family planning.

Treatment for CRD is currently limited, and mainly focuses on supportive measures such as visual aids and adaptive technologies. However, ongoing research into the genetics and underlying mechanisms of the disorder may lead to new treatment options in the future.