GBA Gene Gaucher disease type 2 NGS Genetic Test
Short Name: GBA Gaucher Type 2 NGS Test
Also known as: GBA Gene Sequencing Test, Gaucher Disease Type 2 Genetic Test, Acute Neuronopathic Gaucher Disease NGS Test, Glucocerebrosidase Gene Mutation Test, GBA Mutation Analysis NGS
GBA Gene Gaucher disease type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatics Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.. 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 primary purpose of this test is to detect pathogenic mutations in the GBA gene that cause Gaucher Disease Type 2 (acute neuronopathic Gaucher disease). It is used for diagnostic confirmation in symptomatic individuals, differential diagnosis from other lysosomal storage or neurodegenerative disorders, carrier testing in family members, and informed genetic counseling for recurrence risk assessment and reproductive planning.
- Test Code
- 2007
- CPT Code
- 81479
- ICD Code
- E75.2
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatics Analysis
Sample Collection
No special preparation such as fasting is required. A genetic counseling session is recommended prior to testing to draw a detailed pedigree chart of family members affected with Gaucher Disease Type 2 and to discuss the implications of test results. Provide the clinical history of the patient, including symptom onset, imaging findings, enzyme assay results (if available), and family history.
Method: Venipuncture or Finger-prick (FTA Card)
Laboratory Analysis
A venous blood sample of 3-5 mL will be collected in an EDTA (lavender top) vacutainer. Alternatively, a finger-prick blood sample can be collected on an FTA card. The collection procedure takes approximately 5-10 minutes and involves minimal discomfort.
Report Delivery
After collection, the sample is labeled, stored at ambient room temperature, and transported to the DNA Labs India laboratory under controlled conditions. The sample undergoes DNA extraction, library preparation, NGS sequencing, bioinformatics analysis, and variant interpretation. Results are typically available within 3 to 4 weeks.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to detect pathogenic mutations in the GBA gene that cause Gaucher Disease Type 2 (acute neuronopathic Gaucher disease). It is used for diagnostic confirmation in symptomatic individuals, differential diagnosis from other lysosomal storage or neurodegenerative disorders, carrier testing in family members, and informed genetic counseling for recurrence risk assessment and reproductive planning.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (lavender top) vacutainer or use an FTA card with a finger-prick blood drop
- Clearly label the sample with the patient's full name, date of birth, and unique sample ID
- Store the sample at ambient room temperature; do not freeze
- Transport the sample to the laboratory within 48 hours of collection
- Include the completed test requisition form with patient's clinical history and informed consent
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Gaucher Disease Type 2 is a severe, rapidly progressive neurovisceral lysosomal storage disorder that typically manifests in early infancy. Early genetic confirmation through GBA gene sequencing is critical for accurate diagnosis, genetic counseling for families, informed management planning, and distinguishing this condition from other infantile neurodegenerative disorders. NGS-based testing provides comprehensive coverage of the GBA gene, enabling identification of known pathogenic variants as well as novel mutations that may not be detected by targeted mutation panels. I recommend this test for any infant presenting with oculomotor apraxia, progressive neurologic deterioration, hepatosplenomegaly, and organomegaly of uncertain etiology."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper labeling or requisition form
- Hemolyzed or clotted blood sample
- Insufficient sample volume for DNA extraction
- Sample collected in incorrect container (e.g., heparin tube instead of EDTA)
- Sample contaminated or showing signs of bacterial growth
Understanding Your Results
Confirms the molecular diagnosis of Gaucher disease. The specific variant combination may help predict disease subtype (Type 2 is commonly associated with homozygous L444P, D409H, or other severe variants). Correlation with clinical presentation and enzyme activity is recommended.
Diagnostic confirmation of Gaucher Disease Type 2
Suggestive but not confirmatory of Gaucher disease. Additional family studies, enzyme activity assays, and functional analysis of the VUS may be required for definitive classification.
Inconclusive; further investigation recommended
Does not fully exclude Gaucher disease. Large deletions, deep intronic mutations, or regulatory variants not covered by NGS may be responsible. Enzymatic assay and MLPA should be considered if clinical suspicion remains high.
Reduced likelihood; alternative diagnoses or additional testing recommended
The individual is a carrier of Gaucher disease and is typically unaffected. Genetic counseling is recommended for family planning purposes. The carrier's partner may also benefit from testing.
Carrier status; genetic counseling recommended
Consult a clinical geneticist or pediatric neurologist immediately if your infant shows signs of hepatosplenomegaly (enlarged liver and spleen), progressive neurological deterioration, oculomotor apraxia, seizures, difficulty swallowing, or poor muscle tone. If test results reveal pathogenic variants, consult your geneticist for comprehensive management planning, genetic counseling for family members, and reproductive risk assessment. Even if no pathogenic variants are found but clinical suspicion persists, consult your physician for further evaluation including enzyme assays and additional genetic testing.
Limitations
- ⚠This test does not detect large deletions, duplications, or copy number variations in the GBA gene; MLPA may be needed for such cases
- ⚠Deep intronic mutations and regulatory region variants outside the targeted region may not be detected
- ⚠Variants of uncertain significance (VUS) may be identified and may require additional family studies or functional analysis for reclassification
- ⚠Phenotype severity and disease progression cannot be predicted solely from genotype
- ⚠This test does not measure glucocerebrosidase enzyme activity; enzymatic assays should be ordered separately if needed
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Very small risk of infection at the puncture site (standard venipuncture risk)
- ●Psychological or emotional impact of genetic test results on the patient and family
- ●Identification of variants of uncertain significance (VUS) may cause anxiety without providing definitive answers
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing results
- ●Highly homologous GBA pseudogene (GBAP1) may cause mapping challenges during NGS analysis
- ●Blood sample hemolysis or improper storage may compromise DNA extraction
- ●Recent blood transfusion (within 120 days) may affect results if using patient DNA from blood
Compare With Similar Tests
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Frequently Asked Questions
What is Gaucher Disease Type 2?
What does the GBA Gene Gaucher Disease Type 2 NGS Genetic Test detect?
What sample is required for this test?
What is the cost of the GBA Gene Gaucher Disease Type 2 NGS Genetic Test?
How long does it take to get the results?
Is home sample collection available for this test?
Is genetic counseling recommended before taking this test?
What is the difference between Gaucher Disease Type 1, Type 2, and Type 3?
Can this test be used for carrier detection?
Does DNA Labs India share raw genetic data files?
What if the test result is negative but clinical suspicion remains?
Is this test suitable for prenatal diagnosis?
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