LIAS Gene Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency Genetic Test
At DNA Labs UAE, we offer the LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency genetic test. This test is designed to identify mutations in the LIAS gene associated with this rare genetic disorder.
Test Components
The LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency genetic test includes the following components:
- NGS Technology
- Metabolic Disorders
Price
The cost of the LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency genetic test is 4400.0 AED.
Sample Condition
We accept the following sample conditions for this test:
- Blood
- Extracted DNA
- One drop of blood on FTA Card
Report Delivery
The report for this test will be delivered within 3 to 4 weeks.
Test Type
The LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency genetic test falls under the category of metabolic disorders.
Doctor
This test can be ordered by a general physician.
Test Department
The LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency genetic test is conducted in our Genetics department.
Pre Test Information
Prior to undergoing the LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency genetic 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 with this disorder.
Test Details
LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency is a rare genetic disorder that affects the LIAS gene. This gene is responsible for producing an enzyme called lipoate synthase, which is involved in the production of lipoic acid. Lipoic acid is an essential cofactor for several enzymes, including pyruvate dehydrogenase, which plays a crucial role in energy production.
Individuals with LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency have mutations in the LIAS gene, resulting in reduced or absent lipoate synthase activity. This leads to a deficiency of lipoic acid, which impairs the function of pyruvate dehydrogenase and other lipoic acid-dependent enzymes.
The LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency genetic test utilizes Next-Generation Sequencing (NGS) technology to identify mutations in the LIAS gene associated with this disorder. NGS is a high-throughput DNA sequencing technology that allows for the analysis of multiple genes simultaneously, enabling efficient and comprehensive genetic testing.
Diagnosis of LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency through NGS genetic testing can help confirm the underlying genetic cause of the disorder and guide appropriate management and treatment strategies. It can also provide valuable information for genetic counseling and family planning.
| Test Name | LIAS Gene Pyruvate dehydrogenase lipoic acid synthetase 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 LIAS Gene Pyruvate dehydrogenase lipoic acid synthetase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Pyruvate dehydrogenase lipoic acid synthetase deficiency |
| Test Details |
LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency is a rare genetic disorder that affects the LIAS gene. This gene provides instructions for making an enzyme called lipoate synthase, which is involved in the production of lipoic acid. Lipoic acid is an essential cofactor for several enzymes, including pyruvate dehydrogenase, which plays a crucial role in energy production. Individuals with LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency have mutations in the LIAS gene that result in reduced or absent lipoate synthase activity. This leads to a deficiency of lipoic acid, which impairs the function of pyruvate dehydrogenase and other lipoic acid-dependent enzymes. NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations in the LIAS gene associated with this disorder. NGS is a high-throughput DNA sequencing technology that can analyze multiple genes simultaneously, allowing for efficient and comprehensive genetic testing. Diagnosis of LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency through NGS genetic testing can help confirm the underlying genetic cause of the disorder and guide appropriate management and treatment strategies. It can also provide valuable information for genetic counseling and family planning. |
