PIK3R1 Gene SHORT syndrome NGS Genetic Test
Short Name: PIK3R1 NGS
Also known as: SHORT syndrome genetic test, PIK3R1 gene sequencing
PIK3R1 Gene SHORT syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the PIK3R1 gene that cause SHORT syndrome. Genetic confirmation helps in establishing a definitive diagnosis, differentiating from other syndromes with overlapping features, and providing information for recurrence risk assessment and family planning.
- Test Code
- 5929
- CPT Code
- 81407
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended to discuss the implications of the test.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
Blood sample is drawn by a trained phlebotomist. For FTA card, a few drops of blood are placed on the card.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the PIK3R1 gene that cause SHORT syndrome. Genetic confirmation helps in establishing a definitive diagnosis, differentiating from other syndromes with overlapping features, and providing information for recurrence risk assessment and family planning.
How to Prepare
- For blood sample: Use EDTA tube, mix gently to prevent clotting.
- For FTA card: Apply blood drops to the designated circles, air dry for 30 minutes.
- Label the sample with patient name, date, and time of collection.
- Transport sample to the lab within 24 hours at ambient temperature.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"SHORT syndrome is a rare autosomal dominant disorder. Early genetic confirmation is crucial for management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit time (>48 hours) without proper storage
Understanding Your Results
Positive (pathogenic variant detected)
Confirms diagnosis of SHORT syndrome. Genetic counseling recommended for family members.
Negative (no pathogenic variant)
Does not rule out SHORT syndrome if clinical suspicion is high. Consider other genetic causes or re-evaluation.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed to clarify the significance.
If you or your child have symptoms suggestive of SHORT syndrome, or if there is a family history, consult a clinical geneticist or pediatrician for evaluation and genetic testing.
Limitations
- ⚠NGS may not detect large deletions/duplications or deep intronic variants
- ⚠Variants of uncertain significance may require further functional studies
- ⚠Negative result does not exclude a diagnosis if clinical suspicion is high
- ⚠Test does not assess other genes associated with similar phenotypes
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings (unrelated to SHORT syndrome)
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Presence of maternal cell contamination (if prenatal)
- ●Incomplete coverage of certain gene regions due to technical limitations
Compare With Similar Tests
| Test | PIK3R1 Gene SHORT syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted PIK3R1 Sanger Sequencing |
|---|---|---|---|
| Comparison | PIK3R1 Gene SHORT syndrome NGS Genetic Test |
Frequently Asked Questions
What is SHORT syndrome?
How is the PIK3R1 gene test performed?
What is the cost of the test?
How long does it take to get results?
Do I need to fast before the test?
What sample types are accepted?
Will I receive raw data files?
Is genetic counseling included?
Can this test detect carriers?
What if the test is negative?
Is the test covered by insurance?
How do I book the test?
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₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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