GBA Gene Gaucher disease type 3C NGS Genetic Test
Short Name: GBA Gene Gaucher Type 3C NGS Test
Also known as: GBA Gene NGS Test for Gaucher Type 3C, Glucocerebrosidase Gene Sequencing Test, Gaucher Disease Type 3C Molecular Genetic Test, GBA Mutation Analysis NGS Test, Neuronopathic Gaucher Disease Type 3C Genetic Test
GBA Gene Gaucher disease type 3C 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 Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. Reports are delivered via Online Portal, Email, and WhatsApp.. 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 the GBA Gene Gaucher Disease Type 3C NGS Genetic Test is to identify pathogenic mutations in the GBA gene responsible for Gaucher disease type 3C. This test aids in confirming a clinical diagnosis, differentiating Gaucher disease type 3C from other lysosomal storage disorders and neurological conditions, guiding treatment decisions including enzyme replacement therapy, enabling genetic counselling for affected families, supporting carrier identification, and facilitating informed reproductive planning.
- Test Code
- 2013
- CPT Code
- 81479
- ICD Code
- E75.22
- 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 sample receipt at the laboratory. Reports are delivered via Online Portal, Email, and WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Genetic counselling session is recommended prior to sample collection. A detailed family history and pedigree chart of family members affected with Gaucher disease type 3C should be prepared. Ensure the patient or legal guardian provides informed written consent for genetic testing. No fasting is required. Maintain the sample at ambient room temperature after collection.
Method: Venipuncture or FTA Card Blood Spot
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender top) tube using standard venipuncture technique. Alternatively, one drop of blood can be collected on an FTA card. Proper labelling of the sample with patient identification details is essential. The collection procedure is similar to a routine blood draw with minimal discomfort.
Report Delivery
The blood sample should be stored at ambient room temperature and transported to the laboratory within 48 hours of collection. Avoid freezing the sample. Ensure the sample is properly packaged during transport. Results will be available within 3 to 4 weeks and delivered via Online Portal, Email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. Reports are delivered via Online Portal, Email, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the GBA Gene Gaucher Disease Type 3C NGS Genetic Test is to identify pathogenic mutations in the GBA gene responsible for Gaucher disease type 3C. This test aids in confirming a clinical diagnosis, differentiating Gaucher disease type 3C from other lysosomal storage disorders and neurological conditions, guiding treatment decisions including enzyme replacement therapy, enabling genetic counselling for affected families, supporting carrier identification, and facilitating informed reproductive planning.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (lavender top) tube via standard venipuncture
- Alternatively, one drop of blood may be collected on an FTA card
- Properly label the sample with patient name, date of birth, and unique identification number
- Store at ambient room temperature after collection
- Transport to the laboratory within 48 hours of collection
- Do not freeze the blood sample
- Ensure informed consent form is signed and accompanies the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Patients with a family history of Gaucher disease or presenting with unexplained hepatosplenomegaly combined with neurological symptoms such as seizures, abnormal eye movements, or delayed developmental milestones should be considered for GBA gene testing. Early genetic diagnosis through NGS technology enables timely initiation of enzyme replacement therapy, appropriate neurological management, informed genetic counseling for family planning, and cascade testing of at-risk family members."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in incorrect anticoagulant tube (non-EDTA)
- Haemolysed or clotted blood sample
- Sample without proper patient identification or labelling
- Sample received without signed informed consent form
- Sample contaminated or improperly stored
- Sample older than 48 hours from time of collection (for whole blood)
Understanding Your Results
Pathogenic variant(s) detected
Confirms molecular diagnosis of Gaucher disease type 3C. Two pathogenic variants in trans indicate disease-causing compound heterozygous or homozygous state. Genetic counselling and treatment planning are recommended.
Likely pathogenic variant(s) detected
Strong evidence for disease association. Clinical correlation and follow-up genetic counselling are advised. Family studies may help confirm pathogenicity.
Variant of Uncertain Significance (VUS) detected
The clinical significance of the detected variant cannot be determined at this time. Correlation with clinical findings, family studies, and functional data is recommended. Reanalysis may be warranted as new evidence emerges.
Likely benign variant(s) detected
Variant likely does not contribute to Gaucher disease type 3C. Clinical correlation is recommended if symptoms persist.
No pathogenic variants detected
No disease-causing mutations in the GBA gene were identified by this sequencing method. However, this result does not completely exclude Gaucher disease if large deletions, deep intronic mutations, or mutations in other genes are suspected. Biochemical enzyme assay and clinical evaluation are recommended.
Consult a clinical geneticist or metabolic disease specialist if you or your child experience unexplained seizures, abnormal eye movements, progressive neurological decline, delayed developmental milestones, enlarged liver or spleen, difficulty swallowing, or speech problems — particularly if there is a family history of Gaucher disease or other lysosomal storage disorders. Early medical consultation and genetic testing can lead to timely diagnosis and intervention.
Limitations
- ⚠This test may not detect large structural rearrangements or deep intronic mutations outside the targeted regions
- ⚠The GBA pseudogene (GBAP1) shares high homology with the functional gene, which may occasionally complicate variant interpretation
- ⚠Variants of uncertain significance (VUS) may be identified that cannot be definitively classified at the time of testing
- ⚠This test does not replace enzymatic activity assays for biochemical confirmation of Gaucher disease
- ⚠Results should always be interpreted in conjunction with clinical findings and family history by a qualified geneticist
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Very rare risk of infection at the needle insertion site
- ●Psychological impact of genetic test results on the patient and family
- ●Potential identification of variants of uncertain significance (VUS) that may cause anxiety
- ●Risk of incidental findings unrelated to the primary indication for testing
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing results
- ●Blood samples collected in incorrect anticoagulant tubes may yield suboptimal results
- ●Recent blood transfusion within the past 4 weeks may interfere with results
- ●Contamination during sample collection or transport may compromise analysis
- ●Presence of pseudogene (GBAP1) sequences requires specialised bioinformatic pipelines for accurate variant calling
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Frequently Asked Questions
What is Gaucher Disease Type 3C?
What does the GBA Gene Gaucher Disease Type 3C NGS Genetic Test detect?
What sample is required for the GBA gene NGS test?
How long does it take to get the results of the GBA Gene NGS Test?
Is fasting required before the GBA Gene NGS Genetic Test?
What are the symptoms of Gaucher Disease Type 3C?
How is Gaucher Disease Type 3C diagnosed?
Who should get tested for GBA gene mutations?
Is home sample collection available for the GBA Gene NGS Test?
What does a positive result mean for the GBA Gene Gaucher Disease Type 3C Test?
Is genetic counselling recommended before and after this test?
What is the cost of the GBA Gene Gaucher Disease Type 3C NGS Genetic Test in India?
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