PSAP Gene Gaucher disease, atypical NGS Genetic Test
Short Name: PSAP Gaucher NGS Test
Also known as: PSAP gene test for Gaucher disease, Atypical Gaucher disease genetic test, Prosaposin gene analysis
PSAP Gene Gaucher disease, atypical NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. 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 the PSAP Gene Gaucher Disease Atypical NGS Genetic Test is to identify mutations in the PSAP gene for definitive diagnosis of atypical Gaucher disease, guiding treatment decisions and family planning.
- Test Code
- 4682
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
No special preparation is required. Provide clinical history and family pedigree information.
Method: Venipuncture or finger-prick
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist using sterile techniques.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PSAP Gene Gaucher Disease Atypical NGS Genetic Test is to identify mutations in the PSAP gene for definitive diagnosis of atypical Gaucher disease, guiding treatment decisions and family planning.
How to Prepare
- Ensure proper patient identification
- Use sterile collection equipment
- Label samples correctly
- Transport samples at ambient temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for PSAP gene mutations is essential for definitive diagnosis of atypical Gaucher disease, enabling personalized management and family genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improper labeling
- Contaminated samples
Understanding Your Results
Consult a geneticist or healthcare provider if results are positive or if symptoms persist despite negative results, for comprehensive evaluation and management.
Limitations
- ⚠May not detect all possible mutations or variants of uncertain significance
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minor bruising or pain at puncture site
- ●Rare risk of infection
- ●No significant long-term risks
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Recent blood transfusion
- ●Improper sample storage
Compare With Similar Tests
| Test | PSAP Gene Gaucher disease, atypical NGS Genetic Test | GBA gene test | Enzyme assay for glucocerebrosidase | Lysosomal storage disorder panel | Bone marrow biopsy |
|---|---|---|---|---|---|
| Comparison | PSAP Gene Gaucher disease, atypical NGS Genetic Test |
Frequently Asked Questions
What is PSAP gene Gaucher disease?
How is the atypical NGS Genetic Test performed?
What is the cost of the PSAP Gene Gaucher Disease NGS Test in India?
Is home sample collection available for this test?
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Is fasting required before the test?
What sample types are accepted for the test?
How accurate is the NGS Genetic Test for Gaucher disease?
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Are there any risks associated with the test?
Does DNA Labs India provide raw data files with the test report?
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Reference 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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