GCH1 Gene Hyperphenylalaninemia BH4-Deficient B NGS Genetic DNA Test
Comprehensive Genetic Analysis for Neurological Disorders
The GCH1 Gene Hyperphenylalaninemia BH4-Deficient B NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the GCH1 gene, which plays a critical role in the synthesis of tetrahydrobiopterin (BH4), an essential cofactor for neurotransmitter production and phenylalanine metabolism. BH4 deficiency can lead to severe neurological complications if left undiagnosed and untreated.
What This Test Measures and Detects
Our comprehensive NGS-based genetic analysis examines the complete coding region of the GCH1 gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Pathogenic variants affecting BH4 synthesis
- Genetic markers associated with hyperphenylalaninemia
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Progressive neurological deterioration
- Movement disorders including dystonia and Parkinsonism
- Seizures unresponsive to conventional treatments
- Elevated phenylalanine levels on newborn screening
- Family history of hyperphenylalaninemia or BH4 deficiency
- Unexplained cognitive impairment or intellectual disability
Clinical Benefits of Genetic Testing
Early diagnosis through genetic testing provides numerous advantages:
- Enables targeted treatment with BH4 supplementation
- Facilitates early intervention to prevent neurological damage
- Provides accurate genetic counseling for family planning
- Helps predict disease progression and prognosis
- Reduces unnecessary diagnostic procedures
- Supports personalized treatment approaches
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of findings:
- Positive Result: Identifies specific GCH1 gene mutations confirming BH4-deficient hyperphenylalaninemia, enabling immediate treatment initiation
- Negative Result: No pathogenic variants detected in GCH1 gene, suggesting alternative causes for symptoms
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Identifies individuals carrying one copy of mutated gene without symptoms
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure accurate and reliable results with a turnaround time of 3-4 weeks.
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our specialists
- Family pedigree analysis for affected members
- Sample collection (Blood, Extracted DNA, or Blood on FTA Card)
Take the first step toward accurate diagnosis and effective treatment. Book your GCH1 Gene Hyperphenylalaninemia BH4-Deficient B NGS Genetic DNA Test today by calling +1(267) 388-9828 or schedule your appointment online. Our genetic specialists are ready to provide comprehensive support and guidance throughout your testing journey.
