PRPS1 Gene Phosphoribosylpyrophosphate synthetase superactivity NGS Genetic Test
Short Name: PRPS1 Gene NGS Test
Also known as: PRPP Synthetase Superactivity NGS Test, PRPS1 Mutation Analysis Test, PRPS1 Gene Sequencing Test, Phosphoribosylpyrophosphate Synthetase Superactivity Genetic Test, PRPPS Superactivity DNA Test
PRPS1 Gene Phosphoribosylpyrophosphate synthetase superactivity NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Analysis, Variant Classification (ACMG Guidelines) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. Reports are delivered via the online portal, email, and WhatsApp. DNA Labs India also provides raw data files (FASTQ and VCF) along with the clinical report upon request.. 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
The purpose of this test is to identify pathogenic or likely pathogenic variants in the PRPS1 gene to confirm a diagnosis of phosphoribosylpyrophosphate synthetase superactivity. It aids in establishing a molecular diagnosis for patients with unexplained hyperuricemia, early-onset gout, recurrent nephrolithiasis, or unexplained neurological and developmental abnormalities. The test results guide clinical management decisions, enable carrier testing in family members, inform genetic counselling regarding recurrence risk, and may support eligibility for targeted therapies or clinical trials.
- Test Code
- 2224
- ICD Code
- E79.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. Reports are delivered via the online portal, email, and WhatsApp. DNA Labs India also provides raw data files (FASTQ and VCF) along with the clinical report upon request.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Analysis, Variant Classification (ACMG Guidelines)
Sample Collection
A genetic counselling session is recommended prior to sample collection to draw a pedigree chart of family members affected with phosphoribosylpyrophosphate synthetase superactivity, document clinical history, and obtain informed consent. No fasting is required. Ensure the patient's clinical history and relevant family history details are available.
Method: Venipuncture
Laboratory Analysis
A venipuncture blood sample of 3-5 mL is collected in an EDTA (lavender-top) vacutainer. Alternatively, extracted DNA or one drop of blood on an FTA card may be submitted. The sample is labelled carefully with patient details and transported at ambient room temperature to the laboratory.
Report Delivery
The sample is processed in the NGS laboratory for DNA extraction, library preparation, sequencing, bioinformatics analysis, and variant interpretation. Reports are delivered within 3 to 4 weeks through the online portal, email, and WhatsApp. Post-test genetic counselling is recommended to interpret results and discuss implications.
Timeline: Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. Reports are delivered via the online portal, email, and WhatsApp. DNA Labs India also provides raw data files (FASTQ and VCF) along with the clinical report upon request.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the PRPS1 gene to confirm a diagnosis of phosphoribosylpyrophosphate synthetase superactivity. It aids in establishing a molecular diagnosis for patients with unexplained hyperuricemia, early-onset gout, recurrent nephrolithiasis, or unexplained neurological and developmental abnormalities. The test results guide clinical management decisions, enable carrier testing in family members, inform genetic counselling regarding recurrence risk, and may support eligibility for targeted therapies or clinical trials.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (lavender-top) vacutainer under aseptic conditions.
- Alternatively, an FTA card with one drop of blood or pre-extracted DNA may be used.
- Label the sample with the patient's full name, date of birth, and unique identification number.
- Transport the sample at ambient room temperature. Avoid extreme heat or cold exposure.
- Ensure the requisition form includes clinical history, family history, and signed informed consent.
- If using an FTA card, allow the blood spot to air dry completely before packaging.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"PRPS1 gene phosphoribosylpyrophosphate synthetase superactivity is a rare X-linked disorder of purine metabolism that can lead to significant morbidity if left undiagnosed. Early genetic testing using NGS technology allows for precise identification of pathogenic variants in the PRPS1 gene, enabling timely clinical management including urate-lowering therapy, monitoring for nephrolithiasis, and neurodevelopmental support. I recommend this test for patients presenting with unexplained hyperuricemia, early-onset gout, recurrent kidney stones, or neurological symptoms of unknown etiology, particularly when there is a family history suggestive of X-linked inheritance. A comprehensive genetic counselling session should precede and follow testing to ensure the patient and family understand the implications of the results."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in incorrect container (non-EDTA anticoagulant)
- Haemolysed or clotted blood sample
- Insufficient sample volume
- Missing or mismatched patient identification on the sample and requisition form
- Sample received without signed informed consent or requisition form
- Sample contaminated or improperly stored during transit
Understanding Your Results
Confirms molecular diagnosis of PRPS1 gene phosphoribosylpyrophosphate synthetase superactivity. Correlate with clinical features and biochemical markers (serum uric acid, urine purine metabolites). Refer for specialist management and genetic counselling for the family.
A variant was identified whose clinical significance is currently unknown. It is not possible to definitively classify this variant as disease-causing or benign. Clinical correlation, family segregation studies, and periodic reclassification are recommended.
No pathogenic or likely pathogenic variants were identified in the PRPS1 gene. This result does not completely exclude the diagnosis if clinical suspicion is high. Consider testing for other genes involved in purine metabolism disorders or alternative diagnostic approaches.
A female carrier of a pathogenic PRPS1 variant may or may not exhibit symptoms due to X-linked inheritance and random X-inactivation. Carrier testing and genetic counselling for at-risk family members is recommended.
Consult a doctor or metabolic medicine specialist if you or your child experience unexplained recurrent gout, persistently elevated uric acid levels, recurrent kidney stones, unexplained neurological symptoms, developmental delays, or intellectual disability. Additionally, seek medical advice if there is a known family history of PRPS1 mutations or phosphoribosylpyrophosphate synthetase superactivity. After receiving test results, follow up with your healthcare provider or genetic counsellor to discuss the findings, management options, and implications for family members.
Limitations
- ⚠This test detects variants in the PRPS1 gene only and does not screen for other genes associated with purine metabolism disorders.
- ⚠Deep intronic variants and certain regulatory region mutations may not be detected by standard NGS coding region analysis.
- ⚠A negative result does not completely exclude the possibility of a PRPS1-related disorder if caused by undetectable variant types.
- ⚠Variants of Uncertain Significance (VUS) may be identified and require periodic reclassification as new evidence emerges.
- ⚠Mosaicism at low levels may not be reliably detected.
Risks & Considerations
- ●Minimal physical risk associated with blood draw, including slight bruising or discomfort at the venipuncture site
- ●Potential psychological impact of receiving a genetic diagnosis, including anxiety or distress
- ●Implications for family members who may be carriers or at risk of the condition
- ●Potential impact on life insurance or health insurance eligibility in some jurisdictions
Interfering Factors
- ●Degraded or insufficient DNA quality from the sample
- ●Contamination of the sample during collection or transport
- ●Recent blood transfusion within the past 4 weeks may affect results
- ●Haematological malignancies affecting DNA composition
Compare With Similar Tests
| Test | PRPS1 Gene Phosphoribosylpyrophosphate synthetase superactivity NGS Genetic Test | HPRT1 Gene Lesch-Nyhan Syndrome NGS Test | Xanthine Oxidase Deficiency Genetic Test | Purine Metabolism Panel NGS Test |
|---|---|---|---|---|
| Comparison | PRPS1 Gene Phosphoribosylpyrophosphate synthetase superactivity NGS Genetic Test | Both conditions involve disorders of purine metabolism causing hyperuricemia. HPRT1 deficiency (Lesch-Nyhan syndrome) is caused by loss-of-function mutations leading to decreased purine recycling, while PRPS1 superactivity is caused by gain-of-function mutations leading to increased purine production. Both are X-linked disorders. | Xanthine oxidase deficiency leads to reduced uric acid production (opposite of PRPS1 superactivity). Testing for both conditions may be indicated in patients with atypical purine metabolism presentations. | A broader panel that screens multiple genes involved in purine and pyrimidine metabolism simultaneously. May be considered when PRPS1-specific testing is negative but clinical suspicion remains high. |
Frequently Asked Questions
What is the PRPS1 Gene Phosphoribosylpyrophosphate Synthetase Superactivity NGS Genetic Test?
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Can the PRPS1 Gene NGS Genetic Test be used for carrier detection in family members?
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