L2HGDH Gene L-2-Hydroxyglutaric Aciduria NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The L2HGDH Gene L-2-Hydroxyglutaric Aciduria NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing rare metabolic conditions. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the L2HGDH gene, which plays a critical role in cellular metabolism and neurological function. Early detection through this test can significantly impact treatment outcomes and quality of life for affected individuals.
What Does This Test Measure?
This comprehensive genetic analysis specifically targets the L2HGDH gene, which encodes the enzyme L-2-hydroxyglutarate dehydrogenase. When this enzyme is deficient due to genetic mutations, L-2-hydroxyglutaric acid accumulates in the body, particularly in the brain and cerebrospinal fluid. The NGS technology employed in this test:
- Sequences the entire L2HGDH gene coding region
- Identifies point mutations, insertions, and deletions
- Detects both known and novel genetic variants
- Provides comprehensive coverage of all exons and flanking regions
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of L-2-hydroxyglutaric aciduria or those with relevant family history:
- Children with developmental delays or regression
- Individuals experiencing seizures or epilepsy of unknown origin
- Patients with cerebellar ataxia or coordination difficulties
- Those with macrocephaly (enlarged head circumference)
- Individuals with learning disabilities or intellectual impairment
- Patients with abnormal brain MRI findings showing leukoencephalopathy
- Family members of diagnosed individuals for carrier testing
- Couples with family history planning pregnancy
Clinical Benefits of Genetic Testing
Early diagnosis through genetic testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out L-2-hydroxyglutaric aciduria with high precision
- Personalized Treatment: Enables targeted therapeutic interventions and management strategies
- Prognostic Information: Helps predict disease progression and potential complications
- Family Planning: Provides crucial information for reproductive decision-making
- Early Intervention: Allows for prompt initiation of appropriate therapies and monitoring
- Reduced Diagnostic Odyssey: Minimizes unnecessary testing and medical procedures
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of pathogenic mutations in the L2HGDH gene, confirming the diagnosis of L-2-hydroxyglutaric aciduria
- Negative Result: Suggests no disease-causing mutations were detected, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| L2HGDH Gene L-2-Hydroxyglutaric Aciduria NGS Genetic DNA Test – Discount Price | $500 |
| L2HGDH Gene L-2-Hydroxyglutaric Aciduria NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient 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 genetic counselors and medical professionals ensures you receive expert care regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our L2HGDH Gene L-2-Hydroxyglutaric Aciduria NGS Genetic DNA Test provides the clarity you need for informed medical decisions. With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your family’s future.
