PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic disorders. This advanced test specifically targets mutations in the PDP1 gene, which plays a critical role in regulating the pyruvate dehydrogenase complex – a fundamental enzyme system responsible for converting carbohydrates into usable cellular energy. When this regulatory mechanism fails, it leads to severe metabolic disturbances that can significantly impact neurological development and overall health.
What This Test Measures and Detects
Our comprehensive NGS-based test analyzes the entire coding region of the PDP1 gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Regulatory region abnormalities
- Pathogenic variants affecting enzyme function
The test utilizes Next-Generation Sequencing technology, providing unparalleled accuracy and comprehensive coverage of the PDP1 gene with 99% analytical sensitivity. This ensures reliable detection of even rare genetic variants that might be missed by conventional testing methods.
Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with:
- Unexplained neurological symptoms in infancy or childhood
- Developmental delays and cognitive impairment
- Epileptic seizures unresponsive to standard treatments
- Hypotonia (reduced muscle tone) and muscle weakness
- Lactic acidosis episodes
- Abnormal brain imaging findings
- Family history of metabolic disorders
- Siblings of affected individuals for carrier screening
Clinical Benefits of Early Detection
Early diagnosis through genetic testing provides numerous advantages:
- Personalized Treatment Planning: Enables targeted therapeutic interventions
- Family Planning Guidance: Provides crucial information for genetic counseling
- Proactive Management: Allows for early intervention to minimize complications
- Accurate Prognosis: Helps predict disease progression and outcomes
- Reduced Diagnostic Odyssey: Eliminates unnecessary testing and medical procedures
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results:
- Positive Result: Indicates the presence of pathogenic mutations in the PDP1 gene, confirming the diagnosis of pyruvate dehydrogenase phosphatase deficiency
- Negative Result: Suggests that no disease-causing mutations were detected in the PDP1 gene
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is currently unknown, requiring further evaluation
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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
Before scheduling your test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create a detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network ensures that quality genetic testing is accessible to patients nationwide.
Take the Next Step Toward Diagnosis
Don’t let uncertainty about metabolic symptoms delay proper diagnosis and treatment. Our PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency NGS Genetic DNA Test provides the clarity needed for effective management of this complex condition. With our discounted price of $500 USD and comprehensive genetic counseling support, you can make informed decisions about your health or your child’s health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward accurate diagnosis and personalized care.
