STK11 Gene Peutz-Jeghers syndrome NGS Genetic Test
Short Name: STK11 NGS Genetic Test
Also known as: PJS Genetic Test, STK11 Mutation Analysis, Peutz-Jeghers Syndrome NGS Panel
STK11 Gene Peutz-Jeghers 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 Results are typically available within 3 to 4 weeks from the date of sample receipt. You will be notified via email or SMS when the report is ready.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic variants in the STK11 gene that cause Peutz-Jeghers syndrome. Early diagnosis enables proactive management, including regular cancer screening, polyp surveillance, and risk-reduction strategies. It also helps in family planning and cascade testing of relatives.
- Test Code
- 6009
- CPT Code
- 81479
- ICD Code
- Q85.8
- 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 the date of sample receipt. You will be notified via email or SMS when the report is ready.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended to discuss the implications of the test. Please provide a detailed clinical history and family pedigree.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist. If using FTA card, a few drops of blood will be placed on the card. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. You can resume normal activities immediately. The sample will be transported to the laboratory for analysis.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt. You will be notified via email or SMS when the report is ready.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the STK11 gene that cause Peutz-Jeghers syndrome. Early diagnosis enables proactive management, including regular cancer screening, polyp surveillance, and risk-reduction strategies. It also helps in family planning and cascade testing of relatives.
How to Prepare
- Ensure the patient's identity is verified with a valid ID
- Use EDTA tube for blood collection; mix gently to prevent clotting
- If FTA card is used, allow the blood spot to dry completely before packaging
- Label the sample with patient name, date, and unique ID
- Transport the sample at ambient temperature; avoid extreme heat or cold
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for STK11 is crucial for early detection and management of Peutz-Jeghers syndrome. Our NGS-based test provides high accuracy and actionable results."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or missing requisition form
- Sample received after prolonged transit without proper storage
Understanding Your Results
Positive (Pathogenic/Likely Pathogenic variant)
Confirms diagnosis of Peutz-Jeghers syndrome. Increased cancer risk. Recommend regular surveillance and family cascade testing.
Action: Consult with genetic counselor and oncologist for personalized management.
Negative (No pathogenic variant)
Does not rule out PJS if clinical criteria are met. May be due to other genes or undetected variants.
Action: Consider further genetic testing or clinical evaluation.
Variant of Uncertain Significance (VUS)
A genetic change with unclear clinical significance. Not enough evidence to classify as pathogenic or benign.
Action: Additional family studies or functional assays may be needed. Follow clinical surveillance based on symptoms.
If you have symptoms suggestive of Peutz-Jeghers syndrome, such as dark spots on lips or mouth, recurrent abdominal pain, or a family history of PJS, consult a geneticist or gastroenterologist for evaluation and testing.
Limitations
- ⚠This test does not detect all possible mutations; large structural rearrangements may not be identified by sequencing alone
- ⚠Variant of uncertain significance (VUS) may require further family studies
- ⚠Mosaic mutations may be below detection threshold
- ⚠Test is not intended for prenatal diagnosis unless specifically requested
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Poor quality or degraded DNA sample
- ●Contamination during sample collection
- ●Incomplete clinical information may affect interpretation
- ●Rare intronic variants not covered by standard NGS may be missed
Compare With Similar Tests
| Test | STK11 Gene Peutz-Jeghers syndrome NGS Genetic Test | Single Gene STK11 Sequencing | Multi-Gene Cancer Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | STK11 Gene Peutz-Jeghers syndrome NGS Genetic Test |
Frequently Asked Questions
What is the cost of the STK11 gene NGS genetic test?
What sample is required for the test?
How long does it take to get results?
Is fasting required before the test?
Can I get the test done at home?
What does the test detect?
Will I receive raw data files?
Is genetic counseling included?
What is the sensitivity of this NGS test?
Can this test be used for prenatal diagnosis?
What if the result is negative but I have symptoms?
Is the test covered by insurance?
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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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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