PCBD1 Gene Hyperphenylalaninemia BH4 Deficient Type D NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Metabolic Disorders
The PCBD1 Gene Hyperphenylalaninemia BH4 Deficient Type D NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced test specifically targets mutations in the PCBD1 gene, which plays a critical role in the synthesis and regeneration of tetrahydrobiopterin (BH4) – an essential cofactor for phenylalanine hydroxylase enzyme activity. When PCBD1 gene mutations occur, they disrupt normal phenylalanine metabolism, leading to a specific form of hyperphenylalaninemia that requires specialized treatment approaches distinct from classical phenylketonuria (PKU).
What This Test Measures and Detects
Our state-of-the-art NGS Genetic DNA Test provides comprehensive analysis of the PCBD1 gene to identify:
- Point mutations, deletions, and insertions in the PCBD1 gene coding regions
- Genetic variants affecting pterin-4-alpha-carbinolamine dehydratase enzyme function
- Mutations that impair tetrahydrobiopterin (BH4) regeneration and stability
- Genetic markers associated with BH4-deficient hyperphenylalaninemia type D
- Inheritance patterns for family planning and genetic counseling
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained elevated phenylalanine levels in newborn screening
- Developmental delays or neurological symptoms despite dietary management
- Family history of hyperphenylalaninemia or metabolic disorders
- Progressive neurological deterioration in infancy or childhood
- Seizures, movement disorders, or autonomic dysfunction
- Abnormal neurotransmitter metabolite profiles
- Incomplete response to standard phenylalanine-restricted diets
Clinical Benefits of Early Genetic Diagnosis
Early detection through our PCBD1 genetic testing provides numerous advantages:
- Personalized Treatment Planning: Enables targeted BH4 supplementation therapy
- Improved Prognosis: Early intervention prevents neurological damage
- Family Planning Guidance: Identifies inheritance patterns for future generations
- Accurate Diagnosis: Distinguishes from other forms of hyperphenylalaninemia
- Comprehensive Management: Guides neurotransmitter precursor supplementation
- Reduced Healthcare Costs: Prevents unnecessary treatments and hospitalizations
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identifies pathogenic mutations requiring immediate medical intervention and specialized metabolic management
- Negative Result: Rules out PCBD1-related hyperphenylalaninemia, guiding investigation toward other metabolic disorders
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family planning and genetic counseling purposes
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have 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 Genetic Health Today
Don’t wait for symptoms to progress. Early genetic testing can make a significant difference in managing PCBD1-related hyperphenylalaninemia. Our expert genetic counselors and metabolic specialists are available to guide you through the testing process and help interpret your results.
Call us now at +1(267) 388-9828 to schedule your genetic consultation and testing appointment. Our team is ready to provide the comprehensive care and support you need for accurate diagnosis and effective management of metabolic genetic disorders.
Test Turnaround Time: 3-4 Weeks | Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
