RPIA Gene Ribose 5-phosphate isomerase deficiency NGS Genetic Test
Short Name: RPIA Gene Test
Also known as: Ribose 5-phosphate isomerase A deficiency, RPIA deficiency
RPIA Gene Ribose 5-phosphate isomerase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose RPIA gene mutations causing ribose 5-phosphate isomerase deficiency through Next-Generation Sequencing (NGS) technology, enabling early intervention and genetic counseling.
- Test Code
- 2234
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing
Sample Collection
Clinical history review of the patient and a genetic counseling session to draw a pedigree chart of family members affected with ribose 5-phosphate isomerase deficiency.
Method: Venipuncture
Laboratory Analysis
Standard venipuncture procedure to collect blood sample, ensuring aseptic technique.
Report Delivery
Apply pressure to the puncture site to prevent bleeding and apply a bandage if needed.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose RPIA gene mutations causing ribose 5-phosphate isomerase deficiency through Next-Generation Sequencing (NGS) technology, enabling early intervention and genetic counseling.
How to Prepare
- Use aseptic technique
- Collect blood in EDTA tube
- Label sample with patient details
- Transport at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for RPIA deficiency is crucial for early diagnosis, management, and genetic counseling in families with suspected metabolic disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient volume
- Improper labeling
- Clotted blood sample
Understanding Your Results
Positive
Pathogenic variant detected, consistent with RPIA deficiency. Clinical management and genetic counseling advised.
Negative
No pathogenic variants detected. Consider other diagnoses or re-testing if symptoms persist.
Variant of Uncertain Significance
Further analysis, family studies, or functional assays recommended for classification.
When symptoms such as developmental delay, seizures, or microcephaly are present, or for family planning if there is a family history of ribose 5-phosphate isomerase deficiency.
Limitations
- ⚠May not detect all mutation types (e.g., large deletions)
- ⚠Results require clinical correlation
- ⚠Genetic counseling recommended for interpretation
- ⚠Limited to coding regions of RPIA gene
Risks & Considerations
- ●Minor bruising at puncture site
- ●Rare infection risk
- ●Psychological impact of results
- ●False positive or negative possibilities
Interfering Factors
- ●Hemolyzed blood sample
- ●Contaminated DNA
- ●Incorrect sample handling
- ●Use of expired reagents
Compare With Similar Tests
| Test | RPIA Gene Ribose 5-phosphate isomerase deficiency NGS Genetic Test | Whole Exome Sequencing | Metabolic Disorder Genetic Panel | RPIA Enzyme Activity Assay | Targeted Gene Sequencing |
|---|---|---|---|---|---|
| Comparison | RPIA Gene Ribose 5-phosphate isomerase deficiency NGS Genetic Test | Broader scope for multiple genes but higher cost and longer turnaround time. | May include RPIA but focuses on multiple genes related to metabolic disorders. | Functional test but less specific for genetic mutations. | Limited to specific genes, may miss variants in non-targeted regions. |
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