PPP1R17 Gene Hypercholesterolemia, susceptibility to NGS Genetic Test
Short Name: PPP1R17 Hypercholesterolemia NGS Test
Also known as: PPP1R17 Gene Test, Hypercholesterolemia Susceptibility Test, PPP1R17 Mutation Analysis
PPP1R17 Gene Hypercholesterolemia, susceptibility to 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 3-4 weeks from sample receipt. 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 identify mutations in the PPP1R17 gene associated with susceptibility to hypercholesterolemia, aiding in early diagnosis, risk stratification, and personalized treatment planning to reduce cardiovascular disease risk.
- Test Code
- 2084
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks from sample receipt
- Fasting Required
- Yes (8 hours)
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Fast for 8-12 hours before blood draw. Avoid strenuous activity. Provide clinical and family history details.
Method: Venipuncture or Drop on FTA card
Laboratory Analysis
A trained phlebotomist will collect a blood sample using a sterile needle or apply a drop to an FTA card. Minimal discomfort expected.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities. Store samples as per instructions for stability.
Timeline: 3-4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the PPP1R17 gene associated with susceptibility to hypercholesterolemia, aiding in early diagnosis, risk stratification, and personalized treatment planning to reduce cardiovascular disease risk.
How to Prepare
- Fast for 8-12 hours prior to blood collection
- Use aseptic technique to avoid contamination
- Label samples with patient details and test information
- For FTA cards, ensure proper drying before storage
- Transport samples at ambient temperature or as specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for PPP1R17 can identify individuals at risk for hypercholesterolemia and cardiovascular disease, enabling preventive measures and personalized care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or lipemic samples
- Clotted blood samples
- Incorrect sample type or container
- Samples without proper labeling or documentation
- Insufficient sample volume
Understanding Your Results
Positive
Pathogenic or likely pathogenic variant detected in PPP1R17 gene
Action: Increased risk for hypercholesterolemia; consult a genetic counselor or cardiologist for management options
Negative
No pathogenic variants detected in PPP1R17 gene
Action: Lower genetic risk; continue routine cholesterol monitoring and healthy lifestyle
Variant of Uncertain Significance (VUS)
Variant detected but clinical significance is unknown
Action: Further testing or family studies may be recommended; follow-up with genetic specialist
Consult a genetic counselor, cardiologist, or lipid specialist if results are positive, if you have a strong family history of hypercholesterolemia, or if you experience symptoms of cardiovascular disease.
Limitations
- ⚠May not detect all genetic variants associated with hypercholesterolemia
- ⚠Results require interpretation by a qualified geneticist or healthcare provider
- ⚠Does not replace routine lipid profile testing for cholesterol monitoring
- ⚠Genetic risk does not guarantee disease development; environmental factors also play a role
Risks & Considerations
- ●Psychological stress from positive results
- ●Potential for misinterpretation without professional guidance
- ●Low risk of infection or bruising at collection site
Interfering Factors
- ●DNA degradation due to improper sample storage
- ●Contamination during sample collection or processing
- ●Insufficient DNA quantity or quality
- ●Hemolyzed or clotted blood samples
Compare With Similar Tests
| Test | PPP1R17 Gene Hypercholesterolemia, susceptibility to NGS Genetic Test | Lipid Profile Test | Familial Hypercholesterolemia Genetic Panel |
|---|---|---|---|
| Comparison | PPP1R17 Gene Hypercholesterolemia, susceptibility to NGS Genetic Test |
Frequently Asked Questions
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₹20,000Reference Laboratory Services
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