NDUFA9 Gene Leigh Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The NDUFA9 Gene Leigh Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the NDUFA9 gene, which plays a critical role in mitochondrial function and energy production within cells. Leigh syndrome, also known as subacute necrotizing encephalomyelopathy, is a severe neurological disorder that typically manifests in infancy or early childhood, characterized by progressive loss of mental and movement abilities.
What This Advanced Test Detects
This sophisticated next-generation sequencing (NGS) test specifically targets the NDUFA9 gene, which encodes a crucial subunit of mitochondrial complex I (NADH:ubiquinone oxidoreductase). The test identifies:
- Pathogenic variants and mutations in the NDUFA9 gene
- Single nucleotide polymorphisms affecting mitochondrial function
- Deletions, insertions, and copy number variations
- Autosomal recessive inheritance patterns
- Specific genetic markers associated with complex I deficiency
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with:
- Progressive neurological deterioration in infancy or childhood
- Developmental regression following periods of normal development
- Movement disorders including dystonia, ataxia, or tremors
- Respiratory abnormalities and breathing difficulties
- Failure to thrive and feeding difficulties
- Family history of mitochondrial disorders or Leigh syndrome
- Unexplained metabolic acidosis or elevated lactate levels
- Abnormal brain MRI findings characteristic of Leigh syndrome
Significant Benefits of Early Detection
Undergoing the NDUFA9 Gene Leigh Syndrome test provides numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of Leigh syndrome
- Personalized Treatment: Enables targeted therapeutic interventions
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Proactive Management: Allows for early intervention and symptom management
- Research Contribution: Contributes to advancing understanding of mitochondrial disorders
- Peace of Mind: Reduces diagnostic uncertainty for families
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and neurologists:
- Positive Result: Indicates the presence of pathogenic NDUFA9 mutations, confirming Leigh syndrome diagnosis
- Negative Result: Suggests NDUFA9 mutations are not the cause of symptoms, though other genetic causes may be investigated
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further study
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results include comprehensive genetic counseling to help you understand the implications and next steps.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | NDUFA9 Gene Leigh Syndrome 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 |
Pre-Test Requirements
Before scheduling your test, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Discussion of potential implications and outcomes with our specialists
- Review of any previous neurological or metabolic testing
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, serving patients 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 ensures that advanced genetic testing is accessible to families nationwide.
Take the Next Step Toward Answers
If you or your loved one is experiencing symptoms suggestive of Leigh syndrome or has a family history of mitochondrial disorders, don’t wait to seek answers. Our comprehensive NDUFA9 genetic testing provides the clarity needed for proper diagnosis and management.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the NDUFA9 Gene Leigh Syndrome NGS Genetic DNA Test. Our compassionate team is ready to guide you through every step of the testing process and help you understand your results.
