QDPR Gene Hyperphenylalaninemia BH4 Deficient Type C NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The QDPR Gene Hyperphenylalaninemia BH4 Deficient Type C NGS Genetic DNA Test represents a significant advancement in metabolic disorder diagnostics. This specialized genetic analysis focuses on identifying mutations in the QDPR (quinoid dihydropteridine reductase) gene, which plays a crucial role in the regeneration of tetrahydrobiopterin (BH4), an essential cofactor for phenylalanine hydroxylase enzyme function.
Understanding BH4 Deficiency and Hyperphenylalaninemia
BH4 deficient hyperphenylalaninemia type C is a rare autosomal recessive metabolic disorder characterized by impaired phenylalanine metabolism. Unlike classical phenylketonuria (PKU), this condition involves defects in the BH4 synthesis or recycling pathway, leading to neurotransmitter deficiencies in addition to elevated phenylalanine levels. The QDPR gene specifically encodes the enzyme responsible for maintaining BH4 in its active reduced form, making it critical for proper neurotransmitter synthesis and phenylalanine metabolism.
What the Test Measures and Detects
Our advanced NGS Genetic DNA Test provides comprehensive analysis of the QDPR gene to identify:
- Pathogenic variants and mutations in the QDPR gene coding regions
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Deletions, insertions, and copy number variations
- Compound heterozygous mutations causing BH4 deficiency
- Genetic markers associated with neurotransmitter synthesis impairment
Advanced NGS Technology
Utilizing next-generation sequencing technology, our test offers unparalleled accuracy in detecting genetic variations. This high-throughput method ensures comprehensive coverage of the entire QDPR gene, providing detailed insights into the molecular basis of BH4 deficient hyperphenylalaninemia type C.
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Elevated phenylalanine levels on newborn screening
- Progressive neurological symptoms despite dietary phenylalanine restriction
- Developmental delays or regression in early childhood
- Seizures, dystonia, or movement disorders
- Autonomic dysfunction and temperature regulation issues
- Family history of metabolic disorders or consanguinity
- Unexplained intellectual disability or cognitive impairment
Clinical Indications and Symptoms
Patients with BH4 deficient hyperphenylalaninemia type C typically exhibit symptoms beyond those seen in classical PKU, including neurotransmitter deficiency manifestations such as truncal hypotonia, hypertonia of extremities, oculogyric crises, and temperature instability. Early diagnosis through genetic testing is crucial for implementing appropriate treatment strategies.
Benefits of QDPR Genetic Testing
- Accurate Diagnosis: Provides definitive molecular confirmation of BH4 deficient hyperphenylalaninemia type C
- Personalized Treatment: Enables targeted therapy with BH4 supplementation and neurotransmitter precursors
- Family Planning: Facilitates genetic counseling and carrier testing for at-risk family members
- Early Intervention: Allows for prompt initiation of appropriate management to prevent neurological damage
- Comprehensive Care: Supports multidisciplinary approach involving metabolic specialists, neurologists, and dietitians
- Prognostic Information: Helps predict disease severity and guide long-term management strategies
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your QDPR gene analysis:
Positive Result Interpretation
A positive result indicating pathogenic mutations in both QDPR gene copies confirms the diagnosis of BH4 deficient hyperphenylalaninemia type C. This finding enables:
- Implementation of specific BH4 replacement therapy
- Initiation of neurotransmitter precursor supplementation (L-DOPA and 5-HTP)
- Development of comprehensive metabolic management plan
- Regular monitoring of phenylalanine levels and neurological status
Negative Result Interpretation
A negative result suggests that QDPR gene mutations are not the cause of elevated phenylalanine levels, guiding further investigation into other forms of hyperphenylalaninemia or BH4 synthesis disorders.
Variant of Uncertain Significance
When variants of uncertain significance are identified, our genetic counselors provide comprehensive guidance on clinical implications and recommend additional family studies when appropriate.
Test Pricing and Details
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | QDPR Gene Hyperphenylalaninemia BH4 Deficient Type C NGS Genetic DNA Test | – |
| Discount Price | Limited time special offer | $500 |
| Regular Price | Standard pricing | $700 |
| Turnaround Time | Comprehensive analysis period | 3-4 Weeks |
| Sample Type | Multiple collection options available | Blood, Extracted DNA, or Blood on FTA Card |
Pre-Test Requirements
Before undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process
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 network of certified collection centers ensures accessible genetic testing services nationwide.
Easy Sample Collection Process
Our flexible sample collection options include:
- Blood draw at any of our certified partner laboratories
- Extracted DNA samples from previous genetic testing
- Convenient blood spot collection on FTA cards for remote testing
Take Control of Your Metabolic Health Today
Early genetic diagnosis of BH4 deficient hyperphenylalaninemia type C can significantly impact treatment outcomes and quality of life. Our specialized QDPR gene testing provides the critical information needed for personalized medical management and comprehensive care planning.
Ready to Schedule Your Test?
Contact our genetic specialists today to discuss your testing needs and schedule your appointment. Call or WhatsApp us at +1(267) 388-9828 to speak with our knowledgeable team who can answer your questions and guide you through the testing process.
Don’t wait to get the answers you need for better metabolic health management. Book your QDPR Gene Hyperphenylalaninemia BH4 Deficient Type C NGS Genetic DNA Test today and take the first step toward comprehensive genetic understanding and personalized treatment.
