DCXR Gene Pentosuria NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Health
The DCXR Gene Pentosuria NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic disorders. This advanced testing methodology utilizes Next-Generation Sequencing (NGS) technology to provide comprehensive analysis of the DCXR gene, which plays a crucial role in xylulose metabolism. Pentosuria is a rare autosomal recessive metabolic condition characterized by the excessive excretion of L-xylulose in urine, and this test offers precise detection capabilities that were previously unavailable through conventional diagnostic methods.
What Does This Test Measure and Detect?
This sophisticated genetic test specifically targets and analyzes the DCXR (dicarbonyl and L-xylulose reductase) gene, which encodes the enzyme responsible for converting L-xylulose to xylitol. The test detects:
- Pathogenic variants and mutations in the DCXR gene
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Copy number variations that may impact gene expression
- Structural variants that compromise metabolic pathways
- Inheritance patterns for genetic counseling purposes
Who Should Consider This Genetic Test?
This comprehensive genetic analysis is particularly recommended for individuals experiencing:
- Unexplained elevated urinary pentose levels detected in routine tests
- Family history of metabolic disorders or pentosuria
- Chronic fatigue without clear medical explanation
- Developmental delays in children with metabolic concerns
- Abnormal sugar metabolism test results
- Planning for pregnancy with family history of metabolic conditions
- Unexplained neurological symptoms with metabolic components
Significant Benefits of Genetic Testing
Undergoing the DCXR Gene Pentosuria NGS Genetic DNA Test provides numerous advantages:
- Early and Accurate Diagnosis: Enables precise identification of pentosuria before symptoms become severe
- Personalized Treatment Planning: Guides healthcare providers in developing targeted management strategies
- Genetic Counseling Insights: Provides valuable information for family planning and genetic risk assessment
- Comprehensive Metabolic Profile: Offers a complete picture of xylulose metabolism and related pathways
- Peace of Mind: Eliminates uncertainty and provides clear diagnostic information
- Advanced Technology: Utilizes state-of-the-art NGS methodology for superior accuracy
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our genetic counseling team. Generally, results may indicate:
- Normal Results: No pathogenic variants detected in the DCXR gene
- Carrier Status: Identification of one mutated copy of the DCXR gene
- Affected Status: Detection of two mutated copies confirming pentosuria diagnosis
- Variant of Uncertain Significance: Genetic changes requiring further clinical correlation
Our genetic specialists will provide comprehensive guidance on result interpretation, implications for health management, and recommendations for follow-up care based on your specific genetic profile.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Accessibility and Convenience
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 cities. Our extensive network ensures that advanced genetic testing is accessible to everyone regardless of location.
Take Control of Your Metabolic Health Today
Don’t let uncertainty about metabolic health concerns affect your quality of life. The DCXR Gene Pentosuria NGS Genetic DNA Test provides the clarity and information needed to make informed healthcare decisions. Our team of genetic specialists and metabolic experts are ready to guide you through the testing process and help you understand your results.
Book your comprehensive genetic test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic metabolic profile and ensuring optimal health management.
Note: Test results are typically available within 3-4 weeks from sample collection. Sample types accepted include blood, extracted DNA, or one drop of blood on FTA card. Pre-test requirements include clinical history documentation and genetic counseling session for family pedigree analysis.
