Test Price
2,800 AED✅ Home Collection Available
MPI Gene Glycosylation Disorder Type 1B Genetic Test in UAE | 2,800 AED | 2026 DHA Guidelines
تحليل جين MPI لاضطراب الغلكزة الخلقي النوع 1B في الإمارات | 2,800 درهم | معتمد من هيئة الصحة بدبي
ملخص تنفيذي: فحص جين MPI باستخدام تقنية التسلسل الجيني من الجيل التالي (NGS) للكشف عن اضطراب الغلكزة الخلقي النوع 1B (CDG Type 1B)، وهو اضطراب استقلابي نادر موروث يؤثر على وظائف الكبد والأمعاء الدقيقة. يُجرى التحليل في مختبر معتمد دولياً وفق معايير ISO 9001:2015 (شهادة رقم: INT/EGQ/2509DA/3139) وتحت إشراف هيئة الصحة بدبي، مع ضمان دقة تشخيصية تصل إلى 99.9% وخدمة سحب منزلي متميزة على مدار الساعة. يتضمن الفحص جلسة استشارة وراثية إلزامية لرسم شجرة العائلة وتفسير النتائج وفق أحدث توجيهات DHA لعام 2026.
Clinical Overview & Diagnostic Context
The MPI Gene Glycosylation Disorder Type 1B Genetic Test is a definitive molecular diagnostic assay that analyzes the entire coding region 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. يكتشف هذا الفحص الطفرات المسببة لاضطراب الغلكزة الخلقي النوع 1B القابل للعلاج.
| Feature | Our Test — NGS MPI Gene Panel | Closest Alternative — Sanger Sequencing |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) — Full Gene Coverage | Sanger Sequencing — Targeted Exon-by-Exon |
| Variant Detection | SNVs, Indels, Copy Number Variants, Deep Intronic Splice Sites | SNVs & Small Indels Only |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks (Fragmented) |
| Clinical Sensitivity | >99% Coding Region Coverage | ~85–90% (Misses Deep Intronic/CNVs) |
| Price (UAE) | 2,800 AED | ~1,800–2,200 AED (Partial Coverage) |
Physician Insight & Clinical Safety Protocol
"The MPI Gene NGS test is a life-changing diagnostic window for families facing unexplained protein-losing enteropathy or congenital hepatic fibrosis — CDG Type 1B is one of the few inborn errors of metabolism with a remarkably effective oral therapy. I urge every clinician to correlate these genetic findings with transferrin isoelectric focusing and plasma mannose levels before initiating treatment. Remember that a negative NGS result does not exclude all glycosylation disorders; broader CDG panels may be warranted if biochemical suspicion remains high."
— Dr. Prabhakar Reddy, DHA License No. 61713011
Clinical Advisory — Do Not Discontinue Prescribed Medication:
Patients must not alter, reduce, or discontinue any prescribed medication (including mannose supplementation, anticoagulants, or supportive therapies) based on genetic test results alone without explicit consultation with their treating physician. This test informs clinical management; it 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 CDS Law 2026 for minors)
- Specimen collected in heparin tube (use EDTA only) — heparin inhibits PCR
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
Per UAE Federal Decree-Law No. 41 of 2024 (Art. 87), all genetic testing on minors requires documented guardian consent and a mandatory pre-test genetic counselling session conducted by a DHA-licensed practitioner.
Specimen Requirements & Pre-Test Logistics
Accepted Specimen Types
Whole Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card
Turnaround Time
3 to 4 Weeks
Pre-Test Mandatory Requirement
Genetic Counselling Session — Pedigree Chart Documentation Required
Critical Pre-Analytical Note: Avoid heparin-based anticoagulants for blood collection. For FTA card submissions, ensure the card is completely dry before sealing in a sterile envelope to prevent microbial degradation. All specimens must be transported via ISO-certified cold-chain logistics at 2–8°C within 4 hours of collection. Patients on mannose therapy must declare this during counselling as it may affect biochemical correlation but does not interfere with DNA analysis.
Frequently Asked Questions — Clinical Guidance
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 remarkably to oral mannose therapy when diagnosed early.
يُستخدم هذا الفحص الجيني لتأكيد تشخيص اضطراب الغلكزة الخلقي النوع 1B الناتج عن طفرات في جين MPI، وهو اضطراب قابل للعلاج بالمكملات الغذائية.
How is the MPI gene test performed and what sample is required?
The test requires a simple blood draw (3–5 mL in EDTA tube), a dried blood spot on an FTA card, or previously extracted DNA, with our DHA-licensed phlebotomists performing hospital-grade home collection across all UAE emirates from 8 AM to 11 PM daily.
يتم سحب عينة دم وريدية بسيطة في أنبوب EDTA أو بقعة دم جافة على بطاقة FTA، مع خدمة سحب منزلي متاحة يومياً من الساعة 8 صباحاً حتى 11 مساءً.
What happens after I receive my MPI gene test results?
Following result delivery, you receive a complimentary telephonic post-test clinical guidance session where a qualified specialist explains variant interpretation, clinical correlation with biochemical markers, and facilitates a direct referral pathway to a metabolic specialist or clinical geneticist for management planning.
بعد استلام النتائج، تحصل على جلسة استشارة هاتفية مجانية مع أخصائي لتفسير النتائج وربطها بالفحوصات الكيميائية الحيوية وتوجيهك إلى الطبيب المختص.
Schedule Your MPI Gene Test — Home Collection Available UAE-Wide
Licensed Facility No. 9834453 | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | DHA-Compliant
Available 8 AM – 11 PM | Direct Insurance Billing Verification via WhatsApp | UAE PDPL-Compliant Data Privacy
Compliant with UAE Federal Decree-Law No. 41 of 2024 (Art. 87), CDS Law 2026 (Minors Protection), and UAE Personal Data Protection Law (PDPL).
© 2026 — DHA-Licensed Diagnostic Facility | All genetic testing requires documented informed consent and pre- counselling.
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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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