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SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency Genetic Test Cost

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

-21%

The SLC25A20 gene plays a crucial role in the body’s metabolism by encoding the carnitine-acylcarnitine translocase (CACT) enzyme. This enzyme is essential for the transport of long-chain fatty acids into the mitochondria, where they are broken down to produce energy. Deficiency in this enzyme, known as Carnitine-Acylcarnitine Translocase (CACT) Deficiency, is a rare genetic condition that can lead to severe metabolic problems, including hypoglycemia, heart problems, liver dysfunction, and muscle weakness, often presenting in the newborn period or early infancy.

To diagnose this condition, a genetic test targeting the SLC25A20 gene can be conducted. DNA Labs UAE offers this specific genetic test to detect mutations in the SLC25A20 gene that would confirm a diagnosis of CACT Deficiency. The test is crucial for early diagnosis and management of the condition, which can significantly improve the quality of life and prognosis for affected individuals.

The cost of the SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to identify any mutations within the gene that could lead to the condition. Given the specialized nature of the test and the potential impact on patient care, the cost reflects the intricate processes and expertise involved in conducting such a genetic analysis.

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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.

SKU: TEST-2203