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GBA Gene Gaucher disease type 3 NGS Genetic Test

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GBA Gene Gaucher disease type 3 NGS Genetic Test

Short Name: GBA Gaucher Type 3 NGS

Also known as: GBA Gene Sequencing Test, Gaucher Disease Type 3 Genetic Test, GBA Mutation Analysis

GBA Gene Gaucher disease type 3 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 to 4 Weeks. Free home collection in 300+ cities across India.

Next Generation Sequencing (NGS) Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Gaucher disease type 3 by detecting mutations in the GBA gene using NGS technology, aiding in clinical management, genetic counseling, and family risk assessment.

Test Code
2002
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
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Ensure genetic counseling is scheduled as per pre-test information.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

A blood sample is drawn via venipuncture or collected on an FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as instructed for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to draw a pedigree chart of family members affected with Gaucher disease type 3.
2
During the Test:Sample collection for NGS analysis in the laboratory.
3
After the Test:Report generation and delivery with genetic counseling for interpretation.

About This Test

Who Should Get This Test

To diagnose Gaucher disease type 3 by detecting mutations in the GBA gene using NGS technology, aiding in clinical management, genetic counseling, and family risk assessment.

How to Prepare

  • Use EDTA tube for blood samples or FTA card for one-drop collection
  • Label samples correctly with patient details
  • Transport at ambient room temperature unless specified otherwise

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for GBA mutations in Gaucher disease type 3 is essential for accurate diagnosis, personalized treatment, and informed family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood samples: Stable at 2-8°C for up to 7 days
FTA cards: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Incorrect sample type or container
  • Insufficient sample volume
  • Hemolyzed or clotted blood samples
  • Missing patient identification or consent forms

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the GBA gene associated with Gaucher disease type 3.
📊

Pathogenic variant detected

Confirms diagnosis of Gaucher disease type 3; refer to genetic counseling for management and family testing.

📊

No pathogenic variant detected

Reduces likelihood of Gaucher disease type 3, but does not exclude other genetic conditions if symptoms persist.

📊

Variant of uncertain significance (VUS)

Requires further investigation or family studies; clinical correlation recommended.

⚠️ When to Consult a Doctor:

Consult a geneticist or metabolic specialist if results are positive, inconclusive, or if symptoms persist despite negative results.

Limitations

  • ⚠May not detect all possible mutations, including deep intronic variants
  • ⚠Variants of uncertain significance (VUS) may require further analysis
  • ⚠Does not assess for other genetic disorders or Gaucher disease subtypes unless specified

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact from genetic results; counseling provided

Interfering Factors

  • ●Poor sample quality or insufficient DNA
  • ●Contamination during sample collection
  • ●Hemolyzed or degraded blood samples

Frequently Asked Questions

What is the GBA Gene Gaucher Disease Type 3 NGS Genetic Test?
It is a genetic test using next-generation sequencing to detect mutations in the GBA gene that cause Gaucher disease type 3, a rare metabolic disorder affecting the liver, spleen, bones, and nervous system.
Who should consider this test?
Individuals with symptoms like enlarged liver/spleen, anemia, bone pain, seizures, developmental delays, or a family history of Gaucher disease should consider this test.
How is the sample collected?
Through a blood draw via venipuncture or using an FTA card for a single drop of blood. Free home sample collection is available across India.
What is the cost of the test?
The test costs INR 20,000, which is inclusive of sample collection, a genetic counseling session, and a detailed clinical report.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection, delivered via online portal, email, or WhatsApp.
Is fasting required before the test?
No, fasting is not required for this genetic test. No special preparation is needed before sample collection.
What does a positive result mean?
A positive result confirms the presence of pathogenic GBA gene mutations indicating Gaucher disease type 3, and requires clinical management by a metabolic specialist or geneticist.
Can this test be used for carrier screening?
Yes, it can identify carriers of GBA mutations, which is useful for family planning and assessing the risk of passing the condition to children.
Is genetic counseling included with the test?
Yes, a complimentary genetic counseling session is included to help you understand the results, implications for family members, and next steps for management.
Are there any risks associated with the test?
The test involves minimal physical risks from the blood draw, such as minor bruising. Psychological support and counseling are available to help cope with genetic results.
What if the test shows a variant of uncertain significance (VUS)?
A VUS means the detected variant has insufficient evidence to classify it as pathogenic or benign. Further testing, family studies, or clinical correlation with a geneticist is recommended.
Is this test covered by insurance?
Coverage varies. It is not typically covered under government schemes like PMJAY, CGHS, or ECHS, but private insurance coverage depends on your individual policy. Check with your insurer for details.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

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.

LIMS Integration

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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