NAGLU Gene Mucopolysaccharidosis type 3B NGS Genetic Test
Short Name: NAGLU Gene MPS 3B NGS Test
Also known as: MPS 3B Genetic Test, Sanfilippo Syndrome Type B NGS Test, NAGLU Gene Sequencing Test
NAGLU Gene Mucopolysaccharidosis type 3B NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 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
To identify pathogenic mutations in the NAGLU gene for accurate diagnosis of Mucopolysaccharidosis type 3B (MPS 3B), aiding in genetic counseling, carrier testing, and personalized treatment planning for affected individuals and families.
- Test Code
- 2183
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 Weeks
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS) Technology
Sample Collection
Provide clinical history and family pedigree as per genetic counseling session. No specific preparation required.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture into an EDTA tube or FTA card. For saliva or extracted DNA, follow lab protocols.
Report Delivery
Apply pressure to the puncture site. Store sample at room temperature and transport to lab within 48 hours.
Timeline: 3-4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the NAGLU gene for accurate diagnosis of Mucopolysaccharidosis type 3B (MPS 3B), aiding in genetic counseling, carrier testing, and personalized treatment planning for affected individuals and families.
How to Prepare
- Ensure proper labeling of sample
- Use aseptic technique
- Avoid hemolysis during blood draw
- For FTA card, allow blood to dry completely
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS test is essential for early diagnosis of MPS 3B, enabling timely genetic counseling and management strategies for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient volume
- Incorrect container or labeling
- Sample older than 48 hours without proper storage
Understanding Your Results
Negative - No pathogenic variants
No NAGLU gene mutations detected. Symptoms may be due to other causes; further evaluation recommended.
Positive - Pathogenic variant detected
Confirmed diagnosis of MPS 3B. Genetic counseling and management plan advised.
Variant of Uncertain Significance (VUS)
Unclear clinical significance; further testing or family studies may be needed.
If symptoms suggestive of MPS 3B are present, such as developmental regression, behavioral issues, or if there is a known family history of Sanfilippo syndrome.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or duplications
- ⚠Results require clinical correlation and genetic counseling
- ⚠Does not assess for other metabolic disorders
Risks & Considerations
- ●Minimal physical risks from blood draw
- ●Potential psychological impact of genetic results
- ●Risk of incidental findings unrelated to MPS 3B
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Prior blood transfusions within 120 days
- ●Insufficient sample volume
Compare With Similar Tests
| Test | NAGLU Gene Mucopolysaccharidosis type 3B NGS Genetic Test | Enzyme Activity Assay | Whole Exome Sequencing | MPS 3A NGS Genetic Test | Genetic Counseling Session |
|---|---|---|---|---|---|
| Comparison | NAGLU Gene Mucopolysaccharidosis type 3B NGS Genetic Test | Measures enzyme activity but may miss some mutations; NGS provides comprehensive genetic analysis. | Broader genetic analysis but higher cost; NGS targeted for NAGLU gene is more specific and cost-effective. | For different gene (SGSH); essential for differential diagnosis of MPS subtypes. | Complements genetic testing for family planning and risk assessment. |
Frequently Asked Questions
What is the NAGLU Gene Mucopolysaccharidosis type 3B NGS Genetic Test?
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