MPI Gene Glycosylation disorder type 1B NGS Genetic Test
Short Name: MPI CDG Type 1B NGS Test
Also known as: MPI-CDG Type 1B Test, Mannose Phosphate Isomerase Deficiency Test, Congenital Disorder of Glycosylation Type 1B
MPI Gene Glycosylation disorder type 1B 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 after 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
The purpose of the MPI Gene Glycosylation Disorder Type 1B NGS Genetic Test is to diagnose CDG-IB by detecting mutations in the MPI gene using advanced NGS technology. This helps confirm clinical suspicions, guide treatment strategies, and provide genetic counseling for affected individuals and their families.
- Test Code
- 2034
- CPT Code
- 81479
- ICD Code
- E77.8
- 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 after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Patient should provide complete clinical history and undergo a genetic counseling session to draw a pedigree chart of family members affected with glycosylation disorders.
Method: Venipuncture for blood, cheek swab for DNA collection
Laboratory Analysis
Blood sample is drawn via venipuncture by a trained phlebotomist, or a cheek swab is collected non-invasively.
Report Delivery
Sample is labeled, processed, and sent to the laboratory under stable conditions for DNA extraction and analysis.
Timeline: Results are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the MPI Gene Glycosylation Disorder Type 1B NGS Genetic Test is to diagnose CDG-IB by detecting mutations in the MPI gene using advanced NGS technology. This helps confirm clinical suspicions, guide treatment strategies, and provide genetic counseling for affected individuals and their families.
How to Prepare
- Fasting is not required
- Avoid eating or drinking for 30 minutes before cheek swab collection
- Ensure sample is properly labeled with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for MPI glycosylation disorder type 1B is crucial for early diagnosis and management, especially in families with a history of metabolic disorders. Consult a specialist for personalized care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Contaminated or unlabeled samples
- Samples without proper documentation
Understanding Your Results
Consult a doctor if symptoms such as failure to thrive, developmental delays, or liver dysfunction are present, or for genetic counseling if there is a family history of glycosylation disorders.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or duplications
- ⚠Results should be interpreted in conjunction with clinical findings and family history
- ⚠Does not rule out other genetic or metabolic disorders
Risks & Considerations
- ●Minor bruising or discomfort from blood draw
- ●Psychological impact of genetic results on patients and families
- ●Risk of false positives or negatives due to test limitations
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Hemolyzed blood samples
- ●Improper sample storage
Compare With Similar Tests
| Test | MPI Gene Glycosylation disorder type 1B NGS Genetic Test | PMM2 Gene Test for CDG Type Ia | Comprehensive Metabolic Panel |
|---|---|---|---|
| Comparison | MPI Gene Glycosylation disorder type 1B NGS Genetic Test |
Frequently Asked Questions
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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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