GBA Gene Gaucher disease type 1 NGS Genetic Test
Short Name: Gaucher Disease Type 1 Genetic Test
Also known as: Glucocerebrosidase Deficiency, GBA-Related Gaucher Disease
GBA Gene Gaucher disease type 1 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
To diagnose Gaucher Disease Type 1 by identifying mutations in the GBA gene, enabling early intervention and management of this metabolic disorder.
- Test Code
- 2001
- 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 session to discuss risks, benefits, and family history; draw a pedigree chart.
Method: Venipuncture
Laboratory Analysis
Standard blood draw procedure; no fasting required.
Report Delivery
Sample sent for NGS analysis; results available in 3-4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Gaucher Disease Type 1 by identifying mutations in the GBA gene, enabling early intervention and management of this metabolic disorder.
How to Prepare
- No fasting required
- Bring valid ID and doctor's prescription
- Use FTA card for one-drop blood if preferred
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is crucial for early diagnosis and management of Gaucher Disease Type 1, especially in families with a history. Genetic counseling helps in understanding implications and treatment options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient sample volume
- Improperly labeled sample
Understanding Your Results
Positive
Pathogenic mutation detected, confirming Gaucher Disease Type 1 diagnosis
Negative
No pathogenic mutation detected; clinical correlation advised for symptoms
If symptoms persist, if there is a family history of Gaucher disease, or if results are positive for genetic counseling and treatment planning.
Limitations
- ⚠Detects only known mutations in GBA gene
- ⚠May not identify all genetic causes of Gaucher disease
Risks & Considerations
- ●Minimal risks associated with blood draw, such as bruising, swelling, or infection at the site
Interfering Factors
- ●Sample contamination
- ●DNA degradation
Compare With Similar Tests
| Test | GBA Gene Gaucher disease type 1 NGS Genetic Test | Gaucher Disease Enzyme Assay | GBA Gene Full Sequencing |
|---|---|---|---|
| Comparison | GBA Gene Gaucher disease type 1 NGS Genetic Test |
Frequently Asked Questions
What is Gaucher Disease Type 1?
What does the GBA gene test detect?
Who should consider this genetic test?
What are the common symptoms of Gaucher Disease Type 1?
How is the test performed?
What is the cost of the GBA Gene Gaucher Disease Type 1 NGS Genetic Test?
Is home sample collection available for this test?
How long does it take to get the test results?
What does a positive test result mean?
Is the test covered by insurance or government schemes?
Are there any risks associated with the genetic test?
How can I book the test with DNA Labs India?
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.