PDHA1 Gene Pyruvate Dehydrogenase E1alpha Deficiency NGS Genetic DNA Test
The PDHA1 Gene Pyruvate Dehydrogenase E1alpha Deficiency NGS Genetic DNA Test is a specialized genetic test used to diagnose deficiencies in the pyruvate dehydrogenase E1alpha enzyme, which plays a vital role in energy metabolism. This test utilizes Next Generation Sequencing (NGS) technology to identify mutations in the PDHA1 gene, which can lead to severe metabolic disorders.
Importance of the Test
Understanding genetic disorders is crucial for early diagnosis and management. The PDHA1 deficiency can result in neurological symptoms and metabolic crises. This test is essential for individuals with unexplained neurological symptoms or metabolic issues, enabling healthcare providers to tailor treatment plans effectively.
What the Test Measures
This genetic test detects mutations in the PDHA1 gene, which is responsible for encoding the E1alpha component of the pyruvate dehydrogenase complex. Abnormalities in this gene can lead to energy production deficits in cells, causing various health complications.
Who Should Consider This Test
- Individuals with a family history of metabolic disorders.
- Patients exhibiting neurological symptoms such as developmental delays, seizures, or hypotonia.
- Those with unexplained metabolic crises or lactic acidosis.
Benefits of Taking the Test
- Early diagnosis can lead to timely intervention and management.
- Provides valuable information for family planning and genetic counseling.
- Helps in understanding the risk of recurrence in future pregnancies.
Understanding Your Results
Results from the PDHA1 Gene test will be interpreted by a qualified genetic counselor or physician. A positive result indicates a mutation that may require further medical evaluation, while a negative result suggests no identified mutations, but does not rule out the disorder entirely.
Test Information and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PDHA1 Gene Pyruvate Dehydrogenase E1alpha Deficiency NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the PDHA1 Gene Pyruvate Dehydrogenase E1alpha Deficiency NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with any questions and help you schedule your appointment.
Turnaround time for results is approximately 3 to 4 weeks. Please ensure you have a clinical history prepared, and consider a genetic counseling session to discuss family history related to pyruvate dehydrogenase E1alpha deficiency.
