HPD Gene Tyrosinemia Type 3 NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The HPD Gene Tyrosinemia Type 3 NGS Genetic DNA Test represents a significant advancement in the diagnosis and management of rare metabolic disorders. This specialized genetic test focuses on identifying mutations in the HPD (4-hydroxyphenylpyruvate dioxygenase) gene, which plays a critical role in the tyrosine metabolic pathway. Tyrosinemia Type 3 is an autosomal recessive condition that affects the body’s ability to properly process the amino acid tyrosine, leading to potential neurological and developmental complications.
What Does This Test Measure?
This advanced genetic screening utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the entire HPD gene for pathogenic variants. The test specifically detects:
- Point mutations and small insertions/deletions in the HPD gene
- Compound heterozygous and homozygous mutations
- Variants affecting enzyme function in tyrosine metabolism
- Genetic markers associated with Tyrosinemia Type 3 inheritance patterns
Who Should Consider This Test?
This genetic screening is particularly recommended for individuals presenting with:
- Unexplained neurological symptoms including seizures or ataxia
- Developmental delays or intellectual disability of unknown origin
- Family history of metabolic disorders or Tyrosinemia
- Elevated tyrosine levels in blood or urine tests
- Consanguineous parents or known carrier status in family members
- Infants with metabolic screening abnormalities
Clinical Benefits of Genetic Testing
Early detection through genetic testing provides numerous advantages:
- Personalized Treatment Planning: Enables targeted dietary management and medication strategies
- Family Planning Guidance: Provides crucial information for reproductive decisions
- Early Intervention: Allows for prompt implementation of therapeutic measures
- Accurate Diagnosis: Eliminates diagnostic uncertainty and prevents unnecessary testing
- Prognostic Information: Helps predict disease progression and potential complications
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates the presence of pathogenic HPD gene mutations. Our genetic counselors will explain inheritance patterns and provide management recommendations.
- Negative Result: Suggests no detectable mutations in the HPD gene, though other metabolic conditions may need consideration.
- Variant of Uncertain Significance: Some genetic changes may require additional family studies for proper interpretation.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have conveniently located branches across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Genetic Health
Don’t let uncertainty about metabolic disorders affect your quality of life. Our HPD Gene Tyrosinemia Type 3 NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With a turnaround time of 3-4 weeks and comprehensive genetic counseling support, we make genetic testing accessible and understandable.
Ready to schedule your test? Call or WhatsApp us today at +1(267) 388-9828 to book your appointment or speak with our genetic specialists.
