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POC1B Gene Cone-Rod Dystrophy Type 20 Genetic Test

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

-21%

The POC1B gene cone-rod dystrophy type 20 genetic test is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the POC1B gene that are associated with cone-rod dystrophy type 20. Cone-rod dystrophy is a group of inherited eye disorders that affect the retina’s photoreceptor cells, leading to a progressive loss of vision. The POC1B gene plays a crucial role in the structure and function of these cells, and mutations can result in the early onset of vision problems, including loss of visual acuity, color vision defects, and sensitivity to light.

The test is conducted through a blood sample or cheek swab, which is then analyzed for specific genetic variations indicative of the condition. This test is particularly important for individuals with a family history of cone-rod dystrophy or those experiencing symptoms, as early detection can aid in managing the condition and planning for future healthcare needs.

The cost of the POC1B gene cone-rod dystrophy type 20 genetic test at DNA Labs UAE is 4400 AED. This investment allows individuals to gain valuable insights into their genetic makeup, providing an opportunity for early intervention and support for those affected by this form of dystrophy.

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  • This test is not intended for medical diagnosis or treatment
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POC1B Gene Cone-rod dystrophy type 20 Genetic Test

At DNA Labs UAE, we offer the POC1B Gene Cone-rod dystrophy type 20 Genetic Test to diagnose and provide insight into this rare genetic disorder that affects the retina of the eye. The test is performed using NGS technology, and the cost is AED 4400.0.

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

Prior to undergoing the POC1B Gene Cone-rod dystrophy type 20 NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by the POC1B Gene Cone-rod dystrophy type 20 NGS Genetic DNA Test gene (POC1B).

Test Details

The POC1B gene is associated with cone-rod dystrophy type 20 (CORD20), a rare genetic disorder that causes progressive vision loss, particularly in the central vision, color vision, and sensitivity to light. This disorder affects the retina of the eye. The POC1B gene is responsible for the production of a protein that plays a role in the formation of cilia, which are tiny hair-like structures that help cells sense their environment.

Mutations in the POC1B gene can disrupt the formation and function of cilia, leading to the development of CORD20. The NGS genetic testing offered by DNA Labs UAE can identify these mutations by sequencing the entire DNA sequence of the POC1B gene. This information can help diagnose CORD20 and provide insight into the underlying genetic cause of the disorder.

The results of the test can also be used for genetic counseling and family planning decisions.

Test Name POC1B Gene Cone-rod dystrophy type 20 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 POC1B Gene Cone-rod dystrophy type 20 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POC1B Gene Cone-rod dystrophy type 20 NGS Genetic DNA Test gene POC1B
Test Details

The POC1B gene is associated with cone-rod dystrophy type 20 (CORD20), a rare genetic disorder that affects the retina of the eye. This disorder causes progressive vision loss, particularly in the central vision, color vision, and sensitivity to light. The POC1B gene provides instructions for making a protein that plays a role in the formation of cilia, which are tiny hair-like structures that help cells sense their environment. Mutations in the POC1B gene can disrupt the formation and function of cilia, leading to the development of CORD20.

NGS genetic testing is a diagnostic tool that can identify mutations in the POC1B gene. This test involves sequencing the entire DNA sequence of the gene to identify any changes or variations that may be present. This information can help diagnose CORD20 and provide insight into the underlying genetic cause of the disorder. It can also be used to inform genetic counseling and family planning decisions.