RPIA Gene Ribose 5-Phosphate Isomerase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The RPIA Gene Ribose 5-Phosphate Isomerase Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced test specifically targets mutations in the RPIA gene, which encodes the enzyme ribose-5-phosphate isomerase—a crucial component of the pentose phosphate pathway. When this enzyme is deficient, it disrupts essential metabolic processes, leading to serious neurological and developmental complications.
What This Test Measures and Detects
Our state-of-the-art NGS Genetic DNA Test provides comprehensive analysis of the RPIA gene to identify:
- Pathogenic variants and mutations in the RPIA gene
- Single nucleotide polymorphisms (SNPs) associated with enzyme deficiency
- Copy number variations affecting gene function
- Inheritance patterns (autosomal recessive)
- Risk assessment for developing ribose-5-phosphate isomerase deficiency
Who Should Consider This Test
This genetic test is particularly recommended for individuals experiencing:
- Unexplained neurological symptoms including seizures or ataxia
- Developmental delays in childhood
- Progressive neurological deterioration
- Family history of metabolic disorders
- Consanguineous parents or affected siblings
- Unexplained leukoencephalopathy findings on MRI
Clinical Benefits of Early Detection
Early identification of RPIA gene mutations provides numerous advantages:
- Enables early intervention and management strategies
- Facilitates personalized treatment planning
- Provides accurate genetic counseling for family planning
- Helps prevent unnecessary diagnostic procedures
- Allows for monitoring of disease progression
- Supports enrollment in clinical trials and research studies
Understanding Your Test Results
Our comprehensive genetic report includes:
- Positive Result: Indicates the presence of pathogenic mutations in the RPIA gene, confirming ribose-5-phosphate isomerase deficiency diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation with symptoms is essential
- Variant of Uncertain Significance (VUS): Genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of the mutated gene who may pass it to offspring
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | RPIA Gene Ribose 5-Phosphate Isomerase Deficiency 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
- Discussion of testing implications with healthcare provider
- Informed consent for genetic testing
Nationwide Accessibility
We have conveniently located branches across the United States, serving patients 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 ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about metabolic disorders affect your health decisions. Our expert genetic counselors and medical professionals are ready to guide you through the testing process and help interpret your results. Early detection through genetic testing can provide crucial information for managing your health effectively.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your RPIA Gene Ribose 5-Phosphate Isomerase Deficiency NGS Genetic DNA Test and take control of your genetic health journey.
