SNRPN Gene Prader-Willi syndrome NGS Genetic Test
Short Name: SNRPN PWS NGS Test
Also known as: SNRPN Gene NGS Test, Prader-Willi Syndrome Genetic Test, PWS NGS Genetic Test, SNRPN Gene Prader-Willi Syndrome DNA Test
SNRPN Gene Prader-Willi syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood, Extracted DNA, or One Drop Blood on FTA Card samples. Results in Reports are typically issued within 3 to 4 weeks. The report will be available online, by email and by WhatsApp.. 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 NGS genetic test is to identify genetic changes in the SNRPN gene and related genes associated with Prader-Willi syndrome. It supports a molecular diagnosis, helps in management planning and provides important information for recurrence risk and genetic counselling.
- Test Code
- 4489
- Price
- ₹20,000
- Sample Type
- Blood, Extracted DNA, or One Drop Blood on FTA Card
- Result Time
- Reports are typically issued within 3 to 4 weeks. The report will be available online, by email and by WhatsApp.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is needed. Patients should carry any previous clinical reports and a clear clinical history. Genetic counselling is recommended before the test to draw a family pedigree chart.
Method: Venipuncture / Blood spot on FTA card
Laboratory Analysis
The healthcare professional collects a venous blood sample in an EDTA tube or takes a few drops of blood on an FTA card. The procedure is quick and causes minimal discomfort.
Report Delivery
You can return to normal activities immediately after sample collection. There are no post-test restrictions.
Timeline: Reports are typically issued within 3 to 4 weeks. The report will be available online, by email and by WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify genetic changes in the SNRPN gene and related genes associated with Prader-Willi syndrome. It supports a molecular diagnosis, helps in management planning and provides important information for recurrence risk and genetic counselling.
How to Prepare
- No fasting required for this genetic test
- Blood can be collected in an EDTA tube or as one drop on an FTA card
- Ensure the sample is correctly labelled and sealed
- Transport the sample at ambient temperature to the laboratory as per instructions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"In Prader-Willi syndrome, molecular confirmation is essential because early multidisciplinary care can significantly improve quality of life. The SNRPN gene NGS test helps clinicians identify the underlying genetic cause and provide accurate recurrence risk counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood
- Insufficient sample volume
- Unlabeled or mislabeled sample
- Improper storage or transport temperature
- Suspected maternal cell contamination
Understanding Your Results
Detection of a pathogenic/likely pathogenic variant in SNRPN gene is consistent with Prader-Willi syndrome.
No disease-causing variants detected; this does not exclude PWS because other molecular mechanisms may be responsible.
Further familial testing and clinical correlation is advised before concluding the diagnosis.
Supports the clinical diagnosis of Prader-Willi syndrome; genetic counselling is strongly recommended.
Consult a clinical geneticist, pediatrician or neurologist if your child has hypotonia, feeding difficulties, global developmental delay, or unexplained hyperphagia and obesity.
Limitations
- ⚠This NGS test is designed for the SNRPN gene and selected PWS-related genes; it may not detect large structural abnormalities, uniparental disomy, or methylation defects without additional analysis.
- ⚠A negative result does not completely exclude Prader-Willi syndrome.
- ⚠Variants of uncertain significance may require further clinical correlation and family testing.
Risks & Considerations
- ●Mild pain at the blood collection site
- ●Minor bruising or hematoma
- ●Dizziness or lightheadedness during blood draw
- ●Rare risk of infection at the puncture site
Interfering Factors
- ●Maternal cell contamination can interfere with results
- ●Degraded or insufficient DNA
- ●Sample mix-up or mislabeling
- ●Variants in large genomic regions may be missed due to limitations of NGS enrichment
- ●Rare variants of uncertain significance requiring family studies
Compare With Similar Tests
| Test | SNRPN Gene Prader-Willi syndrome NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | SNRPN Gene Prader-Willi syndrome NGS Genetic Test |
Frequently Asked Questions
What is the SNRPN gene Prader-Willi syndrome NGS genetic test?
What is the cost of the SNRPN gene Prader-Willi syndrome NGS genetic test?
What sample is required for this test?
Is fasting required before the SNRPN gene NGS genetic test?
How long does it take to get the reports?
Will I receive raw data files with the test report?
Why is the SNRPN gene important in Prader-Willi syndrome?
Can this NGS test detect all causes of Prader-Willi syndrome?
Who should consider taking this test?
Is home sample collection available for this test?
Does medical insurance cover this genetic test?
What should I do before the test?
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