GPHN Gene Molybdenum Cofactor Deficiency Type C NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Metabolic Disorders
The GPHN Gene Molybdenum Cofactor Deficiency Type C NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced testing methodology utilizes next-generation sequencing technology to identify mutations in the GPHN gene, which plays a critical role in molybdenum cofactor biosynthesis. Molybdenum cofactor deficiency type C is an autosomal recessive disorder that affects multiple enzyme systems, leading to severe neurological complications and metabolic disturbances.
What This Test Measures and Detects
This comprehensive genetic test specifically analyzes the GPHN gene for pathogenic variants that disrupt molybdenum cofactor synthesis. The test detects:
- Point mutations, deletions, and insertions in the GPHN gene
- Variants affecting molybdenum cofactor-dependent enzyme function
- Genetic markers associated with neurological deterioration
- Inheritance patterns for family planning purposes
- Risk assessment for future pregnancies
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with:
- Unexplained neonatal seizures and encephalopathy
- Developmental regression or delayed milestones
- Abnormal brain imaging findings
- Family history of molybdenum cofactor deficiency
- Elevated sulfite levels in urine
- Progressive neurological deterioration in infancy
- Suspected metabolic disorders with neurological involvement
Significant Benefits of Genetic Testing
Undergoing the GPHN Gene Molybdenum Cofactor Deficiency Type C test provides numerous advantages:
- Early Diagnosis: Enables prompt intervention and management strategies
- Accurate Prognosis: Provides clarity about disease progression and outcomes
- Family Planning: Offers crucial information for reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches
- Genetic Counseling: Supports informed decision-making for families
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help interpret your results effectively:
- Positive Result: Indicates presence of pathogenic GPHN gene mutations, confirming diagnosis and guiding treatment planning
- Negative Result: Suggests absence of known disease-causing variants in the GPHN gene
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one copy of mutated gene who may pass condition to offspring
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Schedule Your Genetic Test Today
Take the first step toward understanding your genetic health. Our experienced genetic counselors and medical professionals are ready to assist you through every stage of the testing process. Contact us at +1(267) 388-9828 to schedule your appointment or discuss testing options with our specialists.
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-test Requirements: Clinical History and Genetic Counseling Session
Early detection through genetic testing can significantly impact treatment outcomes and quality of life for individuals affected by molybdenum cofactor deficiency type C. Don’t wait – secure your genetic health assessment today.
