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DHCR24 Gene Desmosterolosis Genetic Test Cost

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

-21%

The DHCR24 gene desmosterolosis genetic test is a specialized diagnostic examination designed to detect mutations in the DHCR24 gene, which can lead to desmosterolosis, a rare genetic disorder. Desmosterolosis is characterized by multiple congenital anomalies, including growth retardation, intellectual disability, and distinctive facial features, resulting from an accumulation of desmosterol due to a deficiency in the enzyme 3β-hydroxysterol Δ24-reductase, which the DHCR24 gene encodes.

This test is particularly important for individuals with a clinical presentation suggestive of desmosterolosis or for those with a family history of the condition, as it can provide definitive diagnosis, guide treatment plans, and inform family planning decisions. The process involves collecting a DNA sample, typically through a blood draw, which is then analyzed in a laboratory setting to identify any mutations in the DHCR24 gene.

The test is offered at DNA Labs UAE, a leading facility in genetic testing and analysis. The cost of the DHCR24 gene desmosterolosis genetic test at DNA Labs UAE is 4400 AED. Given the complexity of the test and the specialized analysis involved, the cost reflects the comprehensive nature of the diagnostic process. Patients considering this test are advised to consult with a genetic counselor or a specialist in genetic disorders to understand the implications of the test results and the potential next steps in the management of the condition.

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DHCR24 Gene Desmosterolosis Genetic Test

Are you concerned about the possibility of having desmosterolosis, a rare genetic disorder? DNA Labs UAE offers the DHCR24 Gene Desmosterolosis Genetic Test to help diagnose this condition. Read on to learn more about the test, its components, cost, symptoms, and diagnosis process.

Test Details

The DHCR24 gene is responsible for encoding an enzyme called 24-dehydrocholesterol reductase, which plays a crucial role in cholesterol synthesis. Mutations in this gene can lead to a rare genetic disorder called desmosterolosis. Desmosterolosis is an autosomal recessive disorder characterized by the accumulation of desmosterol, a precursor of cholesterol, in various tissues and organs. This buildup of desmosterol interferes with normal cholesterol synthesis and can lead to a range of symptoms and health problems.

Components and Price

The DHCR24 Gene Desmosterolosis Genetic Test is priced at AED 4400.0. The test can be performed using blood or extracted DNA, or even just one drop of blood on an FTA card.

Report Delivery and Method

After the sample is collected, the report will be delivered within 3 to 4 weeks. The test utilizes NGS (Next-Generation Sequencing) technology to analyze the DHCR24 gene and identify any mutations or variations.

Test Type and Doctor

The DHCR24 Gene Desmosterolosis Genetic Test falls under the category of dysmorphology. It is recommended to consult with a pediatrician for this test, as they specialize in diagnosing and managing genetic disorders in children.

Test Department and Pre Test Information

The test is conducted by the Genetics department at DNA Labs UAE. Prior to the test, it is important to provide the clinical history of the patient who will be undergoing the DHCR24 Gene Desmosterolosis NGS Genetic DNA Test. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by the DHCR24 gene mutation.

Importance of the Test

NGS genetic testing for DHCR24 gene mutations can help in the diagnosis of desmosterolosis and may also be used for carrier testing in individuals with a family history of the condition. It can provide valuable information for genetic counseling and management of affected individuals. However, it is crucial to have genetic testing conducted and interpreted by qualified healthcare professionals who specialize in genetics. They can provide accurate diagnosis, counseling, and guidance based on the test results.

Don’t let uncertainty overshadow your well-being. Contact DNA Labs UAE today to schedule the DHCR24 Gene Desmosterolosis Genetic Test and take control of your genetic health.

Test Name DHCR24 Gene Desmosterolosis 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 Dysmorphology
Doctor Pediatrics
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for DHCR24 Gene Desmosterolosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DHCR24 Gene Desmosterolosis NGS Genetic DNA Test gene DHCR24
Test Details

The DHCR24 gene is responsible for encoding an enzyme called 24-dehydrocholesterol reductase, which plays a crucial role in cholesterol synthesis. Mutations in this gene can lead to a rare genetic disorder called desmosterolosis.

Desmosterolosis is an autosomal recessive disorder characterized by the accumulation of desmosterol, a precursor of cholesterol, in various tissues and organs. This buildup of desmosterol interferes with normal cholesterol synthesis and can lead to a range of symptoms and health problems.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can be used to identify mutations or variations in the DHCR24 gene. This test involves sequencing the entire gene to identify any changes in the DNA sequence that may be associated with desmosterolosis.

NGS genetic testing for DHCR24 gene mutations can help in the diagnosis of desmosterolosis and may also be used for carrier testing in individuals with a family history of the condition. It can provide valuable information for genetic counseling and management of affected individuals.

It is important to note that genetic testing should always be conducted and interpreted by qualified healthcare professionals who specialize in genetics, as they can provide accurate diagnosis, counseling, and guidance based on the test results.

SKU: TEST-4093 Category:

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