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ABHD5 Gene Chanarin-Dorfman syndrome Genetic Test

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

-21%

The ABHD5 Gene Chanarin-Dorfman Syndrome Genetic Test is a sophisticated diagnostic tool available at DNA Labs UAE, designed to identify mutations in the ABHD5 gene, which are responsible for causing Chanarin-Dorfman Syndrome (CDS). This rare genetic disorder is characterized by the accumulation of lipids in various tissues of the body, leading to symptoms such as ichthyosis (scaly skin), liver enlargement, and occasionally hearing and vision problems. The test is particularly crucial for families with a history of the condition or individuals presenting symptoms suggestive of CDS.

Priced at 4400 AED, the test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the state-of-the-art facilities at DNA Labs UAE. The laboratory employs advanced genetic sequencing technologies to scrutinize the ABHD5 gene for any mutations that could lead to the disorder. Results from this test can provide vital information for the diagnosis, management, and treatment planning of Chanarin-Dorfman Syndrome, offering affected individuals and their families a clearer understanding of the condition and how to best tackle it.

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  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
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ABHD5 Gene Chanarin-Dorfman syndrome Genetic Test

Welcome to DNA Labs UAE, where we offer the ABHD5 Gene Chanarin-Dorfman syndrome Genetic Test. This test is designed to diagnose and identify mutations in the ABHD5 gene associated with Chanarin-Dorfman syndrome (CDS).

Test Details

Chanarin-Dorfman syndrome is a rare genetic disorder characterized by the accumulation of lipid droplets in various tissues of the body, including the skin, liver, muscle, and blood cells. Our Next-Generation Sequencing (NGS) technology allows for the simultaneous analysis of multiple genes or the entire genome, making it an effective tool for identifying mutations in the ABHD5 gene.

Components

  • Test Name: ABHD5 Gene Chanarin-Dorfman syndrome Genetic Test
  • Price: 4400.0 AED
  • Sample Condition: Blood
  • 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 ABHD5 Gene Chanarin-Dorfman syndrome Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by Chanarin-Dorfman syndrome. This information will aid in the interpretation of the test results and provide a comprehensive understanding of the genetic factors involved.

Benefits of the Test

The ABHD5 Gene Chanarin-Dorfman syndrome Genetic Test can provide valuable information for diagnostic purposes, genetic counseling, and personalized treatment plans. By analyzing the ABHD5 gene through NGS, healthcare professionals can determine if a person has mutations associated with Chanarin-Dorfman syndrome, allowing for early detection and intervention.

Conclusion

If you suspect that you or a family member may have Chanarin-Dorfman syndrome, our ABHD5 Gene Chanarin-Dorfman syndrome Genetic Test can provide the answers you need. With our advanced NGS technology and expert geneticists, you can trust DNA Labs UAE to deliver accurate and timely results. Contact us today to schedule your test and take control of your genetic health.

Test Name ABHD5 Gene Chanarin-Dorfman syndrome Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood
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 ABHD5 Gene Chanarin-Dorfman syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Chanarin-Dorfman syndrome
Test Details

The ABHD5 gene is associated with a rare genetic disorder called Chanarin-Dorfman syndrome (CDS). This syndrome is characterized by the accumulation of lipid droplets in various tissues, including the skin, liver, muscle, and blood cells.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the simultaneous analysis of multiple genes or the entire genome. In the context of CDS, NGS genetic testing can be used to identify mutations or variants in the ABHD5 gene that may be responsible for causing the syndrome.

By analyzing the ABHD5 gene through NGS, healthcare professionals can determine if a person has mutations in this gene that are associated with Chanarin-Dorfman syndrome. This information can be used for diagnostic purposes, genetic counseling, and to guide personalized treatment plans for individuals with CDS.