PDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency Genetic Test
At DNA Labs UAE, we offer the PDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency Genetic Test to diagnose and identify this rare genetic disorder. This test is essential for individuals experiencing symptoms related to pyruvate dehydrogenase E1-alpha deficiency.
Test Details
The PDHA1 gene pyruvate dehydrogenase E1-alpha deficiency is a genetic disorder that affects the pyruvate dehydrogenase complex, responsible for energy production in cells. This deficiency is caused by mutations in the PDHA1 gene, specifically the E1-alpha subunit of the pyruvate dehydrogenase complex.
We utilize NGS (Next-Generation Sequencing) technology to perform this genetic test. NGS testing involves analyzing a person’s DNA to identify genetic variations or mutations. In the case of PDHA1 gene pyruvate dehydrogenase E1-alpha deficiency, NGS genetic testing helps identify mutations in the PDHA1 gene that may be causing the disorder.
Our test involves sequencing the entire coding region of the PDHA1 gene to detect any variations or mutations. This comprehensive approach ensures accurate and reliable results.
Test Components and Price
Our PDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency Genetic Test is priced at 4400.0 AED.
Sample Condition
We accept blood samples, extracted DNA, or one drop of blood on an FTA Card for this test.
Report Delivery
The report for the PDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency Genetic Test will be delivered within 3 to 4 weeks.
Test Type and Department
This test falls under the category of Metabolic Disorders and is conducted in our Genetics department.
Pre-Test Information
Prior to undergoing the PDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by Pyruvate dehydrogenase E1-alpha deficiency.
Doctor and Genetic Counseling
A General Physician will oversee the PDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency Genetic Test. Our team of genetic counselors is also available to provide guidance and support throughout the testing process.
Conclusion
The PDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency Genetic Test at DNA Labs UAE is a valuable tool for diagnosing and understanding this rare genetic disorder. Our NGS technology ensures accurate and reliable results, providing healthcare professionals and genetic counselors with essential information for personalized treatment plans and genetic counseling.
| Test Name | PDHA1 Gene Pyruvate dehydrogenase E1-alpha 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 PDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Pyruvate dehydrogenase E1-alpha deficiency |
| Test Details |
PDHA1 gene pyruvate dehydrogenase E1-alpha deficiency is a rare genetic disorder that affects the pyruvate dehydrogenase complex, an enzyme complex involved in energy production in cells. This deficiency is caused by mutations in the PDHA1 gene, which provides instructions for making the E1-alpha subunit of the pyruvate dehydrogenase complex. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze a person’s DNA to identify genetic variations or mutations. In the case of PDHA1 gene pyruvate dehydrogenase E1-alpha deficiency, NGS genetic testing can be used to identify mutations in the PDHA1 gene that may be causing the disorder. NGS genetic testing involves sequencing the entire coding region of the PDHA1 gene to detect any variations or mutations that may be present. This can help in confirming a diagnosis of PDHA1 gene pyruvate dehydrogenase E1-alpha deficiency and can also be used for carrier testing or prenatal testing in families with a known history of the disorder. The results of NGS genetic testing can provide valuable information for healthcare professionals and genetic counselors to develop a personalized treatment plan or provide appropriate genetic counseling for affected individuals and their families. |
