PTS Gene Hyperphenylalaninemia BH4-Deficient Type A NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Disorders
The PTS Gene Hyperphenylalaninemia BH4-Deficient Type A NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic disorders. This advanced test specifically targets mutations in the PTS (6-pyruvoyltetrahydropterin synthase) gene, which plays a critical role in tetrahydrobiopterin (BH4) synthesis. BH4 is an essential cofactor for phenylalanine hydroxylase, the enzyme responsible for converting phenylalanine to tyrosine. When PTS gene mutations occur, they disrupt BH4 production, leading to hyperphenylalaninemia and severe neurological complications.
What This Test Measures and Detects
Our comprehensive NGS-based analysis examines the entire coding region of the PTS gene to identify:
- Point mutations, insertions, and deletions in the PTS gene
- Genetic variants associated with BH4-deficient hyperphenylalaninemia type A
- Inheritance patterns for autosomal recessive conditions
- Specific mutations affecting tetrahydrobiopterin biosynthesis
- Genetic markers predictive of disease severity and progression
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Persistent hyperphenylalaninemia despite dietary management
- Neurological symptoms including seizures, developmental delays, or movement disorders
- Family history of BH4-deficient hyperphenylalaninemia
- Abnormal newborn screening results indicating elevated phenylalanine levels
- Progressive neurological deterioration in childhood
- Autonomic dysfunction or temperature regulation issues
- Feeding difficulties and growth retardation in infants
Significant Benefits of Early Genetic Testing
Undergoing the PTS Gene Hyperphenylalaninemia BH4-Deficient Type A test provides numerous advantages:
- Early Intervention: Enables prompt initiation of BH4 supplementation therapy
- Prevention of Neurological Damage: Identifies at-risk individuals before irreversible brain injury occurs
- Personalized Treatment: Guides targeted therapeutic approaches based on specific genetic mutations
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Accurate Diagnosis: Differentiates between various forms of hyperphenylalaninemia
- Improved Prognosis: Early detection significantly enhances long-term neurological outcomes
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results:
- Positive Result: Indicates the presence of PTS gene mutations confirming BH4-deficient hyperphenylalaninemia type A diagnosis
- Negative Result: Suggests absence of detectable PTS gene mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results include detailed interpretation by our board-certified genetic specialists, with recommendations for clinical management and follow-up care.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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, please ensure:
- Complete clinical history documentation for hyperphenylalaninemia evaluation
- Genetic counseling session to create detailed family pedigree chart
- Review of previous metabolic testing and neurological assessments
- Discussion of potential implications for family members
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 state-of-the-art genetic testing facilities ensure consistent, reliable results nationwide.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need for proper diagnosis and treatment. Our specialized genetic testing provides the clarity required for effective management of BH4-deficient hyperphenylalaninemia. Early detection through advanced NGS technology can prevent serious neurological complications and improve quality of life.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your PTS Gene Hyperphenylalaninemia BH4-Deficient Type A NGS Genetic DNA Test. Our genetic specialists are available to answer your questions and guide you through the testing process.
Book your comprehensive genetic assessment today and take the first step toward personalized metabolic disorder management and improved neurological outcomes.
