PNPO Gene Pyridoxamine 5′-Phosphate Oxidase Deficiency NGS Genetic DNA Test
Understanding PNPO Gene Deficiency
The PNPO Gene Pyridoxamine 5′-Phosphate Oxidase Deficiency NGS Genetic DNA Test represents a breakthrough in diagnosing rare metabolic disorders affecting vitamin B6 metabolism. Pyridoxamine 5′-phosphate oxidase deficiency is an autosomal recessive condition caused by mutations in the PNPO gene, which encodes the enzyme responsible for converting pyridoxine and pyridoxamine to pyridoxal 5′-phosphate (PLP), the active cofactor form of vitamin B6.
This deficiency disrupts the body’s ability to properly utilize vitamin B6, leading to severe neurological complications that typically manifest in the neonatal period or early infancy. Without proper diagnosis and treatment, affected individuals may experience developmental delays, seizures, and potentially life-threatening complications.
What This Test Detects
Our advanced NGS Genetic DNA Test specifically identifies mutations in the PNPO gene that cause pyridoxamine 5′-phosphate oxidase deficiency. The test analyzes:
- Complete PNPO gene sequencing for point mutations
- Small insertions and deletions affecting gene function
- Genetic variants that impair enzyme activity
- Autosomal recessive inheritance patterns
- Pathogenic mutations affecting vitamin B6 metabolism
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Neonatal or infantile-onset seizures unresponsive to conventional antiepileptic medications
- Developmental delay or regression in early childhood
- Abnormal neurological findings including hypotonia or hypertonia
- Family history of similar neurological disorders
- Consanguineous parentage increasing genetic risk
- Suspected metabolic disorders with vitamin B6 dependency
- Previous siblings with unexplained neonatal deaths
Benefits of PNPO Genetic Testing
Early diagnosis through our comprehensive genetic testing offers numerous advantages:
- Accurate Diagnosis: Provides definitive identification of PNPO gene mutations
- Targeted Treatment: Enables appropriate vitamin B6 therapy with pyridoxal phosphate
- Prevention of Complications: Early intervention can prevent irreversible neurological damage
- Family Planning: Identifies carrier status for future reproductive decisions
- Improved Outcomes: Timely treatment significantly enhances developmental prognosis
- Cost-Effective: Avoids unnecessary diagnostic procedures and treatments
Understanding Your Test Results
Our comprehensive genetic counseling service helps interpret your PNPO gene test results:
Positive Result
A positive result indicates the presence of pathogenic mutations in both copies of the PNPO gene, confirming the diagnosis of pyridoxamine 5′-phosphate oxidase deficiency. This result enables immediate initiation of appropriate treatment with pyridoxal 5′-phosphate supplementation under medical supervision.
Negative Result
A negative result suggests that no disease-causing mutations were detected in the PNPO gene. However, clinical correlation remains essential, as other genetic or metabolic conditions may present with similar symptoms.
Variant of Uncertain Significance
Some genetic changes may be classified as variants of uncertain significance. In such cases, additional family studies and clinical correlation are recommended to determine the clinical relevance of these findings.
Test Pricing Information
| Test Description | Regular Price | Discount Price |
|---|---|---|
| PNPO Gene Pyridoxamine 5′-Phosphate Oxidase Deficiency NGS Genetic DNA Test | $700 USD | $500 USD |
Test Specifications
- 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
- Specialty: Metabolic Genetics
- Department: Genetics
Pre-Test Requirements
Before undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Development of detailed family pedigree chart
- Discussion of potential outcomes and implications
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders affect your family’s future. Our PNPO Gene Deficiency NGS Genetic DNA Test provides the clarity needed for informed medical decisions and appropriate treatment planning. Early detection can make a significant difference in managing this rare metabolic condition.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
Take the first step toward accurate diagnosis and personalized treatment. Contact us now to learn more about how our comprehensive genetic testing services can benefit you and your family.
