PDHA1 Gene Pyruvate Dehydrogenase E1alpha Deficiency NGS Genetic DNA Test
The PDHA1 Gene Pyruvate Dehydrogenase E1alpha Deficiency NGS Genetic DNA Test is a crucial diagnostic tool for identifying genetic mutations associated with metabolic disorders. This test leverages Next-Generation Sequencing (NGS) technology to provide detailed insights into the PDHA1 gene, which plays a vital role in converting carbohydrates into energy. Understanding the genetic basis of metabolic dysfunction can significantly impact treatment and management strategies.
What the Test Measures
This test measures genetic variations in the PDHA1 gene, which can indicate a deficiency in the pyruvate dehydrogenase E1alpha enzyme. Such deficiencies can lead to severe metabolic complications, including neurological issues and energy production problems.
Who Should Consider This Test?
Individuals experiencing symptoms related to metabolic disorders, such as:
- Neurological issues
- Developmental delays
- Unexplained fatigue
- Severe metabolic crises
Additionally, those with a family history of pyruvate dehydrogenase E1alpha deficiency should consider this test for early detection and intervention.
Benefits of Taking the Test
- Early diagnosis of metabolic disorders
- Informed management and treatment options
- Genetic counseling for affected family members
- Peace of mind through understanding genetic risks
Understanding Your Results
Results from the PDHA1 Gene test will typically indicate whether mutations are present. A genetic counselor will help interpret the results and discuss potential implications for you and your family.
Test Information and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PDHA1 Gene Pyruvate Dehydrogenase E1alpha Deficiency NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Turnaround time for results is approximately 3 to 4 weeks. The sample type required can be blood, extracted DNA, or one drop of blood on an FTA card.
Before the test, it is important to provide a detailed clinical history and undergo a genetic counseling session to draw a pedigree chart of family members affected by pyruvate dehydrogenase E1alpha deficiency.
At DNA Labs Kenya, we have branches across all major cities and offer home sample collection services for your convenience. Book your test today! For inquiries, call or WhatsApp us at +254713408028.
