SLC25A13 Gene Citrin Deficiency Genetic Test
Welcome to DNA Labs UAE, where we offer the SLC25A13 Gene Citrin Deficiency Genetic Test. This test is designed to identify mutations in the SLC25A13 gene, which is responsible for producing the citrin protein. Citrin plays a vital role in transporting specific molecules across the inner membrane of mitochondria.
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
Prior to undergoing the SLC25A13 Gene Citrin Deficiency NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by Citrin deficiency.
Test Details
Citrin deficiency is an autosomal recessive disorder that primarily affects the liver and other organs. This condition occurs due to mutations in the SLC25A13 gene, resulting in impaired transport of specific molecules across the mitochondrial membrane. As a result, there can be a buildup of molecules like citrate and aspartate in the blood and tissues, leading to various symptoms and complications.
Our NGS (Next-Generation Sequencing) genetic testing technique allows for the simultaneous analysis of multiple genes. In the context of citrin deficiency, this test can identify mutations in the SLC25A13 gene. The test involves sequencing the entire gene or specific regions of interest to identify any genetic variants or mutations associated with citrin deficiency.
NGS genetic testing for citrin deficiency serves multiple purposes. It aids in the diagnosis of the condition, identifies carriers of the gene mutation, and provides valuable information for genetic counseling and family planning.
It is crucial to note that genetic testing should always be conducted under the guidance of a healthcare professional, such as a genetic counselor or a medical geneticist. These professionals can interpret the test results and provide appropriate recommendations and support.
| Test Name | SLC25A13 Gene Citrin 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 SLC25A13 Gene Citrin deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Citrin deficiency |
| Test Details |
The SLC25A13 gene is responsible for producing a protein called citrin, which plays a crucial role in the transport of specific molecules across the inner membrane of mitochondria. Mutations in the SLC25A13 gene can lead to a condition known as citrin deficiency. Citrin deficiency is an autosomal recessive disorder that affects the liver and other organs. It is characterized by impaired transport of specific molecules, such as citrate and aspartate, across the mitochondrial membrane. This can result in a buildup of these molecules in the blood and tissues, leading to various symptoms and complications. NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously. In the context of citrin deficiency, NGS genetic testing can be used to identify mutations in the SLC25A13 gene. This test involves sequencing the entire gene or specific regions of interest to identify any genetic variants or mutations that may be associated with citrin deficiency. NGS genetic testing for citrin deficiency can help in the diagnosis of the condition, as well as in identifying carriers of the gene mutation. It can also provide valuable information for genetic counseling and family planning. It is important to note that genetic testing should always be conducted under the guidance of a healthcare professional, such as a genetic counselor or a medical geneticist, who can interpret the results and provide appropriate recommendations and support. |
