DPYS Gene Dihydropyrimidinuria NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The DPYS Gene Dihydropyrimidinuria NGS Genetic DNA Test represents a cutting-edge approach to diagnosing rare metabolic conditions through advanced genetic analysis. This specialized test focuses on identifying mutations in the DPYS gene, which plays a critical role in pyrimidine metabolism—an essential biochemical process that affects neurological function and overall metabolic health.
What is Dihydropyrimidinuria?
Dihydropyrimidinuria is an autosomal recessive metabolic disorder characterized by deficient activity of dihydropyrimidine dehydrogenase (DPD), the enzyme responsible for breaking down pyrimidine bases. This condition can lead to the accumulation of toxic metabolites, potentially causing neurological symptoms, developmental delays, and various metabolic complications that may not be immediately apparent through conventional testing methods.
What the Test Measures and Detects
Our advanced NGS technology provides comprehensive analysis of the DPYS gene, specifically targeting:
- Complete sequencing of the DPYS gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of known pathogenic variants associated with dihydropyrimidinuria
- Assessment of enzyme deficiency risk factors
- Evaluation of carrier status for family planning purposes
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is particularly recommended for individuals experiencing:
- Unexplained neurological symptoms or developmental delays
- Family history of metabolic disorders or unexplained infant deaths
- Abnormal pyrimidine metabolite levels in urine testing
- Adverse reactions to certain medications metabolized through pyrimidine pathways
- Developmental regression or seizure disorders of unknown origin
- Consanguineous parentage with metabolic concerns
Benefits of Genetic Testing
Undergoing the DPYS Gene Dihydropyrimidinuria NGS Genetic DNA Test provides numerous advantages:
- Early Diagnosis: Enables prompt intervention and management strategies
- Personalized Treatment: Guides medication choices and dietary modifications
- Family Planning: Provides crucial information for genetic counseling
- Risk Assessment: Identifies carrier status in family members
- Comprehensive Analysis: Utilizes state-of-the-art NGS technology for accurate results
- Peace of Mind: Resolves diagnostic uncertainty and provides clear answers
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will be carefully analyzed and interpreted by our team of certified genetic counselors and metabolic specialists:
- Positive Result: Indicates the presence of pathogenic mutations in the DPYS gene, confirming dihydropyrimidinuria diagnosis
- Negative Result: Suggests no detectable mutations in the analyzed gene regions
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Detects individuals with one mutated copy who may pass the condition to offspring
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | DPYS Gene Dihydropyrimidinuria NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Review of symptoms and family medical history
- Discussion of testing implications and potential outcomes
Nationwide Accessibility
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, and San Jose. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about metabolic health concerns affect your quality of life. Our DPYS Gene Dihydropyrimidinuria NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic analysis, you’re investing in your long-term health and wellbeing.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
