Test Price
2,800 AED✅ Home Collection Available
MPI Gene Glycosylation Disorder Type 1B Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Executive Summary: The MPI Gene Glycosylation Disorder Type 1B Genetic Test employs Next-Generation Sequencing (NGS) to detect pathogenic variants in the MPI gene responsible for Congenital Disorder of Glycosylation Type 1B (CDG-Ib), a rare autosomal recessive metabolic disorder affecting hepatic and intestinal function. Conducted at DNA Labs UAE — a DHA-licensed facility (License No. 1143) with ISO 9001:2015 certification (Cert. INT/EGQ/2509DA/3139) — this assay delivers >99% coding region coverage with a diagnostic sensitivity of 99.9%. The service includes mandatory pre-test genetic counselling, pedigree chart documentation, and complimentary telephonic post-test result interpretation. VIP mobile phlebotomy and temperature-controlled cold-chain home collection are available daily from 8 AM to 11 PM across all UAE emirates.
Test Overview & Methodology
The MPI Gene Glycosylation Disorder Type 1B Genetic Test is a definitive molecular diagnostic assay that analyzes the entire coding region and selected deep intronic regions of the MPI gene (mannose phosphate isomerase) via Next-Generation Sequencing to detect pathogenic variants responsible for Congenital Disorder of Glycosylation Type 1B (CDG-Ib). This autosomal recessive metabolic condition primarily manifests as protein-losing enteropathy, hepatic fibrosis, and coagulopathy — and is uniquely treatable with oral mannose supplementation when diagnosed early. The test detects single nucleotide variants (SNVs), small insertions and deletions (indels), copy number variants (CNVs), and deep intronic splice-site alterations with high confidence.
| Feature | DNA Labs UAE — NGS MPI Gene Panel | Alternative — Sanger Sequencing |
|---|---|---|
| Methodology | Next-Generation Sequencing — Full Gene Coverage | Sanger Sequencing — Targeted Exon-by-Exon |
| Variant Detection | SNVs, Indels, CNVs, Deep Intronic Splice Sites | SNVs and Small Indels Only |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks |
| Clinical Sensitivity | >99% Coding Region Coverage | ~85–90% (Misses Deep Intronic and CNVs) |
| Price | 2,800 AED | ~1,800–2,200 AED (Partial Coverage) |
Physician Insight & Safety Protocols
"The MPI Gene NGS test provides a critical diagnostic window for families affected by unexplained protein-losing enteropathy or congenital hepatic fibrosis. CDG Type 1B is one of the few inborn errors of metabolism with a proven effective oral therapy using mannose supplementation. I strongly recommend correlating all genetic findings with transferrin isoelectric focusing and plasma mannose levels before initiating treatment. A negative NGS result does not exclude all glycosylation disorders; broader CDG panel testing should be considered if biochemical suspicion remains elevated."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory — Medication Continuation
Do Not Discontinue Prescribed Therapy
Patients must not alter, reduce, or discontinue any prescribed medication — including mannose supplementation, anticoagulants, or supportive therapies — based solely on genetic test results without explicit consultation with their treating physician. This test informs clinical management but does not replace biochemical monitoring or specialist assessment.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria — Do Not Proceed Without Physician Clearance:
- Recent whole blood transfusion within 14 days (donor DNA interference risk)
- Active severe infection or systemic inflammatory state affecting DNA quality
- Bone marrow transplant recipient within the past 90 days
- Inability to provide informed consent per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability
- Specimen collected in heparin tube — use EDTA only; heparin inhibits PCR amplification
Emergency Red Flags — Seek Immediate Medical Attention If:
- Acute severe hypoglycemia unresponsive to oral glucose
- Sudden onset of unexplained bruising or uncontrolled bleeding (coagulopathy)
- Rapidly progressive abdominal distension with hypoalbuminemia
- Acute hepatic decompensation with jaundice and elevated transaminases
- Severe protein-losing enteropathy with hemodynamic instability
Patient FAQ & Clinical Guidance
1. What is the clinical purpose of the MPI Gene Glycosylation Disorder Type 1B NGS Test?
This test provides definitive molecular confirmation of pathogenic variants in the MPI gene causing Congenital Disorder of Glycosylation Type 1B, a treatable inborn error of metabolism characterized by protein-losing enteropathy, hepatic fibrosis, and coagulopathy that responds to oral mannose therapy when diagnosed early. The test also enables carrier detection for at-risk family members.
2. How is the MPI gene test performed and what sample is required?
The test requires a simple blood draw (3–5 mL in an EDTA tube), a dried blood spot on an FTA card, or previously extracted genomic DNA. Our DHA-licensed phlebotomists perform hospital-grade VIP home collection across all UAE emirates daily from 8 AM to 11 PM using temperature-controlled cold-chain logistics. For FTA card submissions, ensure the card is completely dry before sealing to prevent microbial degradation.
3. What does the post-test guidance include?
Following result delivery, you receive a complimentary telephonic session with a qualified genetics specialist who explains variant interpretation, clinical correlation with biochemical markers, and facilitates a direct referral pathway to a metabolic specialist or clinical geneticist for comprehensive management planning. A written clinical report with variant classification per ACMG guidelines is also provided.
4. Is pre-test genetic counselling mandatory?
Yes. A mandatory pre-test genetic counselling session with pedigree chart documentation is required before sample collection. This session ensures informed consent, discusses inheritance patterns, recurrence risks, and the implications of possible results for the patient and family members. The counselling is conducted by a DHA-licensed genetics professional.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with UAE federal regulations governing genetic testing and patient data protection. All genetic testing is conducted under the framework of Federal Decree-Law No. 4 of 2016 on Medical Liability regarding clinical safety and patient consent. Patient health information is secured in accordance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Data encryption, access controls, and audit trails are enforced for all genomic data. Test results are released only to the ordering physician or the patient with documented consent. The laboratory holds ISO 9001:2015 certification (Cert. INT/EGQ/2509DA/3139) and is subject to routine DHA inspection.
Clinical & Logistical Metadata
| Test Name | MPI Gene Glycosylation Disorder Type 1B Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card — VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available Daily 8 AM to 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) — Full Gene Coding Region, Deep Intronic Splice Sites, and CNV Analysis |
| ICD-10-CM Code | E77.8 |
| LOINC Code | 94233-5 |
| DHA Facility License & Address | DHA License No. 1143 | DNA Labs UAE — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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