SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency Genetic Test
Welcome to DNA Labs UAE, where we offer the SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency Genetic Test. This test focuses on mutations in the SLC25A20 gene, which is responsible for producing a protein called carnitine-acylcarnitine translocase. This protein plays a crucial role in transporting fatty acids into the mitochondria for energy production.
Carnitine-acylcarnitine translocase deficiency is a rare genetic disorder that affects the transport of fatty acids into the mitochondria. This leads to a buildup of toxic fatty acid metabolites and a decrease in energy production, resulting in various symptoms such as muscle weakness, low blood sugar, liver dysfunction, and heart problems.
The SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency Genetic Test is performed using NGS (Next-Generation Sequencing) technology. This advanced method allows for the simultaneous analysis of multiple genes, making it a comprehensive and efficient approach to genetic testing. It can detect both common and rare mutations, providing valuable information for diagnosis, severity prediction, and treatment decisions.
Test Details
- Test Name: SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency Genetic Test
- Components: NGS Technology
- Price: 4400.0 AED
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Test Type: Metabolic Disorders
- Doctor: General Physician
- Test Department: Genetics
- Pre Test Information: Clinical History of Patient who is going for SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Carnitine-acylcarnitine translocase deficiency.
Please note that this genetic test should be ordered and interpreted by a qualified healthcare professional, such as a geneticist or genetic counselor, who can provide appropriate guidance and support based on the results.
| Test Name | SLC25A20 Gene Carnitine-acylcarnitine translocase 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 SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Carnitine-acylcarnitine translocase deficiency |
| Test Details |
SLC25A20 gene carnitine-acylcarnitine translocase deficiency NGS genetic test is a type of genetic test that focuses on mutations in the SLC25A20 gene. This gene is responsible for producing a protein called carnitine-acylcarnitine translocase, which is involved in transporting fatty acids into the mitochondria for energy production. Carnitine-acylcarnitine translocase deficiency is a rare genetic disorder characterized by the impaired transport of fatty acids into the mitochondria. This leads to a buildup of toxic fatty acid metabolites and a decrease in energy production, resulting in various symptoms such as muscle weakness, low blood sugar, liver dysfunction, and heart problems. The NGS (Next-Generation Sequencing) genetic test for SLC25A20 gene mutations involves analyzing the DNA sequence of the gene to identify any genetic variants or mutations that may be causing the deficiency. This test can help in confirming a diagnosis, predicting the severity of the condition, and guiding treatment decisions. NGS technology allows for the simultaneous analysis of multiple genes, making it a comprehensive and efficient method for genetic testing. It can detect both common and rare mutations, providing valuable information for genetic counseling and family planning. It is important to note that this genetic test should be ordered and interpreted by a qualified healthcare professional, such as a geneticist or genetic counselor, who can provide appropriate guidance and support based on the results. |
