PDHA1 Gene Pyruvate Dehydrogenase E1-Alpha Deficiency NGS Genetic DNA Test
Comprehensive Introduction to PDHA1 Genetic Testing
The PDHA1 Gene Pyruvate Dehydrogenase E1-Alpha Deficiency NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics. This advanced genetic screening utilizes Next-Generation Sequencing technology to identify mutations in the PDHA1 gene, which encodes the E1-alpha subunit of the pyruvate dehydrogenase complex. This enzyme complex plays a critical role in cellular energy production by converting pyruvate to acetyl-CoA, a fundamental step in the citric acid cycle. Disruptions in this process can lead to severe neurological and metabolic complications, making early detection through this test essential for proper medical management.
What This Test Measures and Detects
Our comprehensive NGS-based test specifically targets the PDHA1 gene located on the X chromosome to identify:
- Point mutations, deletions, and insertions in the PDHA1 gene
- Genetic variants affecting pyruvate dehydrogenase complex function
- X-linked inheritance patterns of pyruvate dehydrogenase deficiency
- Specific mutations that correlate with disease severity and progression
- Carrier status in female relatives of affected individuals
Advanced NGS Technology
Utilizing state-of-the-art Next-Generation Sequencing, this test provides comprehensive coverage of the entire PDHA1 gene with exceptional accuracy and sensitivity. The technology enables detection of both common and rare genetic variants that might be missed by conventional testing methods.
Who Should Consider This Test
This genetic test is recommended for individuals presenting with the following symptoms or clinical indications:
- Infants and children with developmental delays or regression
- Patients exhibiting neurological symptoms including seizures, ataxia, or hypotonia
- Individuals with unexplained metabolic acidosis or elevated lactate levels
- Children with structural brain abnormalities detected on MRI
- Patients with family history of pyruvate dehydrogenase deficiency
- Females with milder symptoms suggesting X-linked inheritance patterns
- Individuals with feeding difficulties and failure to thrive in infancy
Significant Benefits of PDHA1 Genetic Testing
Undergoing this comprehensive genetic assessment provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out pyruvate dehydrogenase E1-alpha deficiency with high precision
- Early Intervention: Enables timely implementation of dietary modifications and therapeutic strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides development of individualized management plans based on specific genetic mutations
- Prognostic Information: Helps predict disease progression and potential complications
- Carrier Detection: Identifies asymptomatic female carriers for appropriate genetic counseling
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results with the following guidance:
- Positive Result: Indicates the presence of pathogenic mutations in the PDHA1 gene. This confirms the diagnosis of pyruvate dehydrogenase E1-alpha deficiency and requires consultation with a metabolic specialist for management planning.
- Negative Result: Suggests no detectable mutations in the PDHA1 gene, though other genetic or metabolic causes should still be considered if clinical symptoms persist.
- Variant of Uncertain Significance: Some genetic changes may have unknown clinical implications, requiring further evaluation and possibly testing of family members.
- Carrier Status: For female patients, the report will indicate carrier status, which is important for genetic counseling and family planning decisions.
Post-Test Recommendations
Following receipt of your results, we recommend scheduling a consultation with our genetic counselors who can provide detailed explanation of the findings and discuss appropriate next steps, including potential treatment options and family testing recommendations.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | PDHA1 Gene Pyruvate Dehydrogenase E1-Alpha Deficiency NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing accuracy and interpretation, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create a detailed pedigree chart of family members affected with pyruvate dehydrogenase E1-alpha deficiency
- Appropriate informed consent for genetic testing
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection centers ensures easy access to this vital genetic testing service.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and management of potential pyruvate dehydrogenase deficiency. Our team of genetic specialists is ready to assist you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your PDHA1 genetic test or to speak with our genetic counseling team. Early detection can make a significant difference in management outcomes for metabolic disorders.
Book your appointment now and take the first step toward comprehensive genetic understanding and personalized medical care for you and your family.
