MAN2B1 Gene Mannosidosis-alpha NGS Genetic Test
Short Name: MAN2B1 NGS Test
Also known as: Alpha-Mannosidosis Genetic Test, MAN2B1 Mutation Analysis
MAN2B1 Gene Mannosidosis-alpha 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 Results are typically available within 3 to 4 weeks from sample receipt.. 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 diagnose alpha-mannosidosis by identifying mutations in the MAN2B1 gene using NGS technology. This helps in confirming the disease, guiding treatment decisions, enabling genetic counselling for families, and supporting prenatal or carrier testing if indicated.
- Test Code
- 2137
- 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.
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
No specific preparation required. Provide clinical history and undergo genetic counselling to draw a pedigree chart.
Method: Venipuncture
Laboratory Analysis
A blood sample is drawn via venipuncture or saliva collected. For FTA card, one drop of blood is applied.
Report Delivery
Apply pressure to the puncture site. Sample is stored at ambient temperature and sent to the laboratory.
Timeline: Results are typically available within 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To diagnose alpha-mannosidosis by identifying mutations in the MAN2B1 gene using NGS technology. This helps in confirming the disease, guiding treatment decisions, enabling genetic counselling for families, and supporting prenatal or carrier testing if indicated.
How to Prepare
- Ensure proper identification and labelling of the sample
- Use aseptic techniques to prevent contamination
- Transport the sample within 24-48 hours at room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early diagnosis and management of alpha-mannosidosis, especially in families with a history of genetic disorders or prenatal concerns."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample improperly labelled or contaminated
- Insufficient sample volume or haemolyzed blood
- Sample not stored or transported as per guidelines
Understanding Your Results
Negative
No pathogenic variants identified; clinical correlation advised if symptoms persist.
Action: Consult a geneticist for further evaluation or alternative diagnoses.
Positive
Pathogenic or likely pathogenic variants detected, confirming diagnosis of alpha-mannosidosis.
Action: Initiate genetic counselling, discuss management options, and consider family screening.
Variant of Uncertain Significance (VUS)
A variant was found, but its clinical significance is not clear.
Action: Repeat testing, test family members, or consult a genetic specialist for clarification.
Consult a healthcare professional immediately after receiving positive results or if symptoms are present. For negative results with persistent symptoms, seek further evaluation.
Limitations
- ⚠Cannot detect all genetic variants, especially deep intronic mutations
- ⚠Results may include variants of uncertain significance requiring further investigation
- ⚠Not designed for detecting other metabolic disorders without additional testing
- ⚠Accuracy depends on reference databases and bioinformatics analysis
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Very low risk of infection or fainting
- ●Emotional impact of results; genetic counselling recommended
Interfering Factors
- ●Poor sample quality or insufficient DNA yield
- ●Contamination during sample collection or transport
- ●Hemolyzed or degraded blood samples
Compare With Similar Tests
| Test | MAN2B1 Gene Mannosidosis-alpha NGS Genetic Test | Alpha-L-iduronidase Gene Test | GALC Gene Test | IDUA Gene Sequencing |
|---|---|---|---|---|
| Comparison | MAN2B1 Gene Mannosidosis-alpha NGS Genetic Test |
Frequently Asked Questions
What is alpha-mannosidosis?
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Is home sample collection available?
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What are the symptoms of alpha-mannosidosis?
Can this test be used for prenatal diagnosis?
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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.
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