NADK2 Gene 2,4-Dienoyl-CoA Reductase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The NADK2 Gene 2,4-Dienoyl-CoA Reductase Deficiency NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing rare metabolic conditions. This advanced genetic analysis specifically targets mutations in the NADK2 gene, which encodes the enzyme 2,4-dienoyl-CoA reductase—a critical component in mitochondrial fatty acid beta-oxidation pathways. When this enzyme functions improperly, it disrupts essential energy production processes, leading to severe metabolic complications that can affect multiple organ systems.
What This Test Measures and Detects
Our state-of-the-art NGS genetic testing platform comprehensively analyzes the NADK2 gene to identify:
- Pathogenic variants and mutations affecting 2,4-dienoyl-CoA reductase function
- Single nucleotide polymorphisms (SNPs) associated with enzyme deficiency
- Copy number variations impacting gene expression
- Novel genetic alterations previously unreported in medical literature
- Inheritance patterns for family genetic counseling
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained metabolic acidosis or recurrent metabolic crises
- Developmental delays in infancy or childhood
- Neurological symptoms including seizures, hypotonia, or movement disorders
- Failure to thrive despite adequate nutritional intake
- Family history of metabolic disorders or unexplained infant deaths
- Abnormal organic acid profiles in urine testing
- Suspected mitochondrial dysfunction syndromes
Clinical Benefits of NADK2 Genetic Testing
Early diagnosis through genetic testing provides numerous advantages:
- Precise Diagnosis: Eliminates diagnostic uncertainty and enables targeted treatment approaches
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides development of customized metabolic management plans
- Proactive Monitoring: Allows for early intervention before severe complications develop
- Research Contribution: Helps advance understanding of rare metabolic diseases
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic variants requiring specialized metabolic care
- Negative Result: Suggests absence of tested NADK2 mutations but may require additional testing
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines inheritance risk for future generations
All results are accompanied by genetic counseling recommendations and referral to metabolic specialists when indicated.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with convenient locations in:
- New York City, NY
- Los Angeles, CA
- Chicago, IL
- Houston, TX
- Phoenix, AZ
- Philadelphia, PA
- San Antonio, TX
- San Diego, CA
- Dallas, TX
- San Jose, CA
Take Control of Your Metabolic Health Today
Don’t let uncertainty about metabolic symptoms affect your quality of life. Our NADK2 genetic testing provides the clarity needed for informed medical decisions and personalized treatment strategies. With a turnaround time of 3-4 weeks and comprehensive genetic counseling support, you’ll receive the answers you need to move forward with confidence.
Schedule your NADK2 Gene 2,4-Dienoyl-CoA Reductase Deficiency NGS Genetic DNA Test today by calling our genetic specialists at +1(267) 388-9828 or booking online through our secure patient portal.
