GBA Gene Gaucher disease, perinatal lethal NGS Genetic Test
Short Name: Gaucher Disease NGS Test
Also known as: GBA Gene Test, Gaucher Disease Genetic Test, Perinatal Lethal Gaucher Test
GBA Gene Gaucher disease, perinatal lethal 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to diagnose Gaucher disease, particularly the perinatal lethal form, by identifying mutations in the GBA gene using NGS technology. It aids in prenatal diagnosis, carrier testing, and genetic counseling to inform reproductive decisions and clinical management.
- Test Code
- 4683
- 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
Genetic counseling is recommended to discuss test implications. Provide clinical history and family pedigree. No special preparation required.
Method: Venipuncture or Blood drop on FTA card
Laboratory Analysis
Blood sample collected via venipuncture or blood drop on FTA card by a trained phlebotomist.
Report Delivery
Sample is labeled, stored at ambient temperature, and transported to the lab for analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Gaucher disease, particularly the perinatal lethal form, by identifying mutations in the GBA gene using NGS technology. It aids in prenatal diagnosis, carrier testing, and genetic counseling to inform reproductive decisions and clinical management.
How to Prepare
- Obtain clinical history of the patient
- Conduct a genetic counseling session to draw a pedigree chart
- Ensure proper sample labeling and documentation
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early diagnosis of Gaucher disease, especially in prenatal settings, to guide family planning and management decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrectly labeled samples
- Contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Gaucher disease. Genetic counseling and clinical management recommended.
No pathogenic variant detected
Gaucher disease unlikely based on this test. Consider other diagnoses or repeat testing if symptoms persist.
Variant of uncertain significance
Further testing and family studies may be needed. Consult a genetic specialist.
Consult a doctor if symptoms of Gaucher disease are present, such as bone pain, fatigue, or enlarged organs, or if there is a family history of the disease. Genetic counseling is advised before and after testing.
Limitations
- ⚠May not detect all possible mutations in the GBA gene
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
- ⚠Not a substitute for comprehensive clinical evaluation
Risks & Considerations
- ●Minor bruising or discomfort at blood draw site
- ●Very low risk of infection
- ●Emotional impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Hemolyzed blood samples
- ●Incorrect sample storage or handling
Compare With Similar Tests
| Test | GBA Gene Gaucher disease, perinatal lethal NGS Genetic Test | Enzyme Assay for Glucocerebrosidase | Sanger Sequencing for GBA Gene | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | GBA Gene Gaucher disease, perinatal lethal NGS Genetic Test |
Frequently Asked Questions
What is Gaucher disease?
What are the types of Gaucher disease?
How is Gaucher disease diagnosed?
What is the perinatal lethal NGS genetic test?
What is the cost of this test in India?
Is home sample collection available?
How long does it take to get results?
What samples are required for the test?
Is genetic counseling necessary?
Can this test be used for prenatal diagnosis?
What if the test result is negative?
Are there any risks associated with the test?
Related Tests
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.