AMACR Gene Alpha-methylacyl CoA racemase deficiency Genetic Test
At DNA Labs UAE, we offer the AMACR Gene Alpha-methylacyl CoA racemase deficiency Genetic Test for individuals suspected of having this rare genetic disorder. This test can provide valuable insights into the underlying genetic cause of the disorder and guide treatment decisions.
Test Details
AMACR (Alpha-methylacyl CoA racemase) deficiency is a rare genetic disorder that affects the metabolism of certain fats in the body. It is caused by mutations in the AMACR gene, which provides instructions for making the alpha-methylacyl CoA racemase enzyme. This enzyme plays a crucial role in the breakdown of branched-chain fatty acids, which are important for energy production and other cellular processes.
NGS (Next-Generation Sequencing) genetic testing is used to analyze multiple genes simultaneously. In the case of AMACR deficiency, NGS genetic testing can identify mutations or variations in the AMACR gene that may be responsible for the disorder. By analyzing the entire coding region of the AMACR gene, NGS testing provides a comprehensive assessment of genetic variants associated with AMACR deficiency.
Test Components and Price
The AMACR Gene Alpha-methylacyl CoA racemase deficiency Genetic Test is priced at 4400.0 AED. The test requires a blood sample or extracted DNA, or one drop of blood on an FTA card.
Report Delivery
Once the sample is received, the report will be delivered within 3 to 4 weeks.
Test Type and Department
The AMACR Gene Alpha-methylacyl CoA racemase deficiency Genetic Test falls under the category of Metabolic Disorders and is conducted by our Genetics department.
Pre Test Information
Prior to the test, it is important to provide the clinical history of the patient who is undergoing the AMACR Gene Alpha-methylacyl CoA racemase deficiency NGS Genetic DNA Test. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected with Alpha-methylacyl CoA racemase deficiency.
Doctor and Genetic Counseling
The test should be performed by a General Physician, specialized in genetics, or a qualified genetic counselor. They can interpret the results and provide appropriate genetic counseling and guidance.
By undergoing the AMACR Gene Alpha-methylacyl CoA racemase deficiency Genetic Test, individuals can gain a better understanding of their genetic makeup and potentially receive targeted treatments based on their specific genetic variations. Contact DNA Labs UAE today to schedule your test.
| Test Name | AMACR Gene Alpha-methylacyl CoA racemase deficiency 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 AMACR Gene Alpha-methylacyl CoA racemase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Alpha-methylacyl CoA racemase deficiency |
| Test Details |
AMACR (Alpha-methylacyl CoA racemase) deficiency is a rare genetic disorder that affects the metabolism of certain fats in the body. It is caused by mutations in the AMACR gene, which provides instructions for making the alpha-methylacyl CoA racemase enzyme. The alpha-methylacyl CoA racemase enzyme plays a crucial role in the breakdown of branched-chain fatty acids, which are important for energy production and other cellular processes. Mutations in the AMACR gene lead to a deficiency or dysfunction of this enzyme, resulting in the accumulation of toxic byproducts and a disruption in normal fatty acid metabolism. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of AMACR deficiency, NGS genetic testing can be used to identify mutations or variations in the AMACR gene that may be responsible for the disorder. By analyzing the entire coding region of the AMACR gene, NGS testing can provide a comprehensive assessment of genetic variants that may be associated with AMACR deficiency. This can help in confirming a diagnosis, understanding the underlying genetic cause of the disorder, and potentially guiding treatment decisions. It is important to note that genetic testing for AMACR deficiency should be performed by a qualified geneticist or genetic counselor who can interpret the results and provide appropriate genetic counseling and guidance. |
