D2HGDH Gene D-2-Hydroxyglutaric Aciduria Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The D2HGDH Gene D-2-Hydroxyglutaric Aciduria Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced test specifically targets mutations in the D2HGDH gene, which encodes the enzyme responsible for breaking down D-2-hydroxyglutaric acid in the body. When this enzyme is deficient due to genetic mutations, toxic levels of D-2-hydroxyglutaric acid accumulate, leading to severe neurological complications and developmental challenges.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test analyzes the entire coding region of the D2HGDH gene to identify pathogenic variants associated with D-2-hydroxyglutaric aciduria type 1. The test specifically detects:
- Point mutations, insertions, and deletions in the D2HGDH gene
- Autosomal recessive inheritance patterns
- Specific genetic variants known to cause enzyme deficiency
- Novel mutations that may contribute to disease development
- Carrier status for family planning purposes
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of D-2-hydroxyglutaric aciduria type 1, including:
- Infants and children with unexplained developmental delays
- Patients experiencing recurrent seizures or epilepsy
- Individuals with hypotonia (low muscle tone) or muscle weakness
- Those with abnormal brain MRI findings showing white matter changes
- Patients with elevated D-2-hydroxyglutaric acid levels in urine or blood
- Family members of diagnosed individuals for carrier screening
- Couples with family history of metabolic disorders planning pregnancy
Key Benefits of Genetic Testing
Undergoing the D2HGDH genetic test provides numerous advantages for patients and healthcare providers:
- Early Diagnosis: Enables prompt intervention and treatment planning
- Personalized Care: Guides targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Treatment Monitoring: Assists in evaluating response to therapeutic interventions
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your D2HGDH test results effectively:
- Positive Result: Indicates the presence of pathogenic mutations confirming diagnosis
- Negative Result: Suggests absence of known disease-causing variants
- Variant of Uncertain Significance: Requires further clinical correlation
- Carrier Status: Identifies individuals with one copy of mutated gene
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors to ensure complete understanding and appropriate next steps.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | D2HGDH Gene D-2-Hydroxyglutaric Aciduria Type 1 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
To ensure accurate results and comprehensive care, we recommend:
- Complete clinical history documentation
- Genetic counseling session prior to testing
- Development of detailed family pedigree chart
- Discussion of potential implications and outcomes
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 more. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders affect your quality of life. Our D2HGDH genetic test provides the clarity needed for informed healthcare decisions. With advanced NGS technology and expert genetic counseling, we deliver accurate, reliable results you can trust.
Ready to schedule your genetic test? Call our dedicated genetic specialists at +1(267) 388-9828 or book your appointment online today. Take the first step toward understanding your genetic health and securing personalized medical care.
