OGDH Gene Alpha-ketoglutarate Dehydrogenase Deficiency NGS Genetic DNA Test
Comprehensive Introduction to Alpha-ketoglutarate Dehydrogenase Deficiency Testing
The OGDH Gene Alpha-ketoglutarate Dehydrogenase Deficiency NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics. Alpha-ketoglutarate dehydrogenase deficiency is an extremely rare autosomal recessive metabolic condition that disrupts the Krebs cycle, the fundamental energy-producing pathway in human cells. This deficiency affects the conversion of alpha-ketoglutarate to succinyl-CoA, leading to severe neurological impairment and developmental delays. Early and accurate diagnosis through genetic testing is crucial for implementing appropriate therapeutic interventions and improving patient outcomes.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based test specifically targets the OGDH gene located on chromosome 7p14.1, which encodes the E1 component of the alpha-ketoglutarate dehydrogenase complex. The test identifies:
- Pathogenic mutations in the OGDH gene coding regions
- Missense, nonsense, and frameshift variants affecting enzyme function
- Copy number variations and structural rearrangements
- Both homozygous and compound heterozygous mutations
- Novel variants with potential clinical significance
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or early childhood
- Progressive neurological deterioration
- Hypotonia (reduced muscle tone) and muscle weakness
- Seizures or epileptic encephalopathy
- Metabolic acidosis and elevated lactate levels
- Family history of similar neurological conditions
- Consanguineous parentage with suspected autosomal recessive inheritance
- Abnormal organic acid profiles suggestive of Krebs cycle defects
Significant Benefits of Early Genetic Testing
Undergoing the OGDH Gene Alpha-ketoglutarate Dehydrogenase Deficiency test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out this rare metabolic disorder with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare metabolic diseases
- Peace of Mind: Reduces diagnostic uncertainty and facilitates appropriate care planning
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identification of pathogenic mutations confirms alpha-ketoglutarate dehydrogenase deficiency diagnosis
- Negative Result: No pathogenic variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals with single mutation copies who may pass the condition to offspring
All results are accompanied by detailed clinical correlations and recommendations from our certified genetic counselors.
Test Pricing and Specifications
| Test Component | Details |
|---|---|
| Test Name | OGDH Gene Alpha-ketoglutarate Dehydrogenase 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 |
Nationwide Testing Availability
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 testing regardless of your location.
Take Action Today for Better Health Outcomes
Don’t let diagnostic uncertainty delay proper care. Our experienced genetic counselors and medical professionals are ready to assist you through every step of the testing process. Early detection of alpha-ketoglutarate dehydrogenase deficiency can significantly impact treatment success and quality of life.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or discuss your testing needs with our genetic specialists. Take the first step toward accurate diagnosis and personalized care.
