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PEX7 Gene Refsum Disease Genetic Test Cost

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

-21%

The PEX7 Gene Refsum Disease Genetic Test is a specialized diagnostic procedure offered at DNA Labs UAE, aimed at identifying mutations in the PEX7 gene, which are responsible for the development of Refsum Disease. This rare genetic disorder affects the metabolism of phytanic acid, leading to its accumulation in the body and resulting in a variety of symptoms including vision and hearing loss, muscle weakness, and coordination problems. Early diagnosis through genetic testing can be crucial for managing the condition effectively. The test cost is set at 4400 AED, reflecting the comprehensive analysis and expertise required to accurately identify the genetic variations associated with this condition. Conducted in the state-of-the-art facilities of DNA Labs UAE, this test offers individuals and families critical insights into their genetic health, enabling informed decisions and personalized management plans for those affected by Refsum Disease.

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PEX7 Gene Refsum Disease Genetic Test

Refsum disease is a rare genetic disorder associated with the PEX7 gene. This peroxisomal disorder affects the breakdown of phytanic acid, a fatty acid found in certain foods. To diagnose Refsum disease, DNA Labs UAE offers a PEX7 Gene Refsum Disease Genetic Test.

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: Metabolic Disorders
  • Doctor: General Physician
  • Test Department: Genetics

Pre Test Information

Prior to the test, it is important to provide the clinical history of the patient who is undergoing the PEX7 Gene Refsum Disease NGS Genetic DNA Test. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected with Refsum disease.

Test Details

The PEX7 gene is responsible for Refsum disease. Mutations in this gene lead to a deficiency of the enzyme responsible for transporting phytanic acid into the peroxisomes for degradation. To analyze the PEX7 gene for mutations, Next-generation sequencing (NGS) genetic testing is used. NGS technology allows for the simultaneous sequencing of multiple genes, including PEX7, in a more efficient and cost-effective manner compared to traditional sequencing methods.

NGS genetic testing for Refsum disease can confirm a diagnosis and identify specific mutations in the PEX7 gene. This information is valuable for genetic counseling, assessing disease severity, and guiding treatment options for affected individuals and their families.

Test Name PEX7 Gene Refsum disease 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 Metabolic Disorders
Doctor General Physician
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for PEX7 Gene Refsum disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Refsum disease
Test Details

The PEX7 gene is associated with a rare genetic disorder called Refsum disease. Refsum disease is a peroxisomal disorder that affects the breakdown of phytanic acid, a fatty acid found in certain foods. Mutations in the PEX7 gene lead to a deficiency of the enzyme responsible for transporting phytanic acid into the peroxisomes for degradation.

Next-generation sequencing (NGS) genetic testing can be used to analyze the PEX7 gene for mutations. NGS technology allows for the simultaneous sequencing of multiple genes, including PEX7, in a more efficient and cost-effective manner compared to traditional sequencing methods.

NGS genetic testing for Refsum disease can help confirm a diagnosis and identify specific mutations in the PEX7 gene that may be responsible for the disorder. This information can be used for genetic counseling, assessing disease severity, and guiding treatment options for affected individuals and their families.

SKU: TEST-2613 Category:

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