DLAT Gene Pyruvate Dehydrogenase E2 Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The DLAT Gene Pyruvate Dehydrogenase E2 Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic disorders. This advanced test specifically targets the DLAT gene, which encodes the E2 component of the pyruvate dehydrogenase complex (PDC) – a critical enzyme system responsible for converting pyruvate into acetyl-CoA during cellular energy production. Disruptions in this essential metabolic pathway can lead to severe neurological and developmental complications, making early detection through genetic testing paramount for effective management and treatment planning.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test analyzes the complete coding region of the DLAT gene to identify pathogenic variants, including:
- Point mutations affecting enzyme function
- Small insertions and deletions disrupting protein structure
- Missense, nonsense, and splice-site mutations
- Copy number variations affecting gene dosage
- Compound heterozygous mutations
The test utilizes state-of-the-art Next-Generation Sequencing technology to provide comprehensive coverage of the DLAT gene with exceptional accuracy and sensitivity, ensuring reliable detection of even rare genetic variants.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with symptoms suggestive of pyruvate dehydrogenase complex deficiency, including:
- Infants and children with unexplained lactic acidosis
- Neurological abnormalities such as seizures or ataxia
- Developmental delay or regression in motor skills
- Hypotonia (reduced muscle tone) and weakness
- Microcephaly or structural brain abnormalities
- Episodic metabolic crises triggered by illness or fasting
- Family history of metabolic disorders or unexplained infant deaths
Benefits of Genetic Testing
Undergoing the DLAT Gene Pyruvate Dehydrogenase E2 Deficiency test offers numerous advantages:
- Accurate Diagnosis: Provides definitive identification of the underlying genetic cause
- Personalized Treatment: Enables targeted therapeutic interventions and dietary modifications
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt management to prevent disease progression
- Prognostic Information: Helps predict disease course and potential complications
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results with clinical context:
- Positive Result: Indicates the presence of pathogenic mutations in the DLAT gene, confirming the diagnosis of pyruvate dehydrogenase E2 deficiency. This result enables implementation of specific treatment strategies and family screening.
- Negative Result: Suggests that no disease-causing mutations were detected in the DLAT gene, though other genetic or metabolic causes should be considered if clinical symptoms persist.
- Variant of Uncertain Significance (VUS): Identifies genetic changes whose clinical significance is currently unknown. Additional family studies may be recommended for clarification.
All results are accompanied by detailed explanations and recommendations for follow-up care with your healthcare provider.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | DLAT Gene Pyruvate Dehydrogenase E2 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Discussion of testing implications with your healthcare provider
- Informed consent for genetic testing procedures
Nationwide Testing Availability
We have conveniently located branches across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Metabolic Health Today
Don’t let uncertainty about metabolic symptoms affect your quality of life. Our DLAT Gene Pyruvate Dehydrogenase E2 Deficiency NGS Genetic DNA Test provides the clarity needed for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic analysis, you can access cutting-edge diagnostic technology without financial burden.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your metabolic health with confidence and precision.
