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Test Price

2,800 AED

✅ Home Collection Available

DPM1 Gene Congenital Disorder of Glycosylation Type Ie (CDG‑Ie) Genetic Test in UAE | 2800 AED

Executive Summary & Core Metrics

DHA‑Licensed Molecular Diagnostics with Full‑Service Support

  • Diagnostic sensitivity exceeding 99.9% via ISO 9001:2015 validated NGS workflow (Cert: INT/EGQ/2509DA/3139)
  • VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection – available daily 8 AM – 11 PM
  • Post‑test tele‑consultation with a DHA‑registered physician to review results and guide next steps
  • Direct insurance verification via WhatsApp +971 54 548 8731

Test Overview & Methodology

The DPM1 Gene NGS Test performs comprehensive sequencing of the DPM1 gene to diagnose Congenital Disorder of Glycosylation Type Ie (CDG‑Ie), a rare inherited metabolic condition. This analysis provides definitive molecular evidence, guiding specialist clinical management and familial risk assessment. Full gene coverage includes all exons and flanking intronic regions to capture single‑nucleotide variants, small insertions/deletions, and splice‑site alterations.

Feature Our DHA‑Certified Test Closest Alternative
Methodology NGS with full gene coverage (all exons ± flanking regions) Single‑gene Sanger sequencing, limited hotspots
Turnaround Time 3–4 Weeks 6–8 Weeks
Diagnostic Sensitivity 99.9% (ISO 9001:2015 validated) ~85% (may miss deep intronic/copy‑number variants)
Price (AED) 2800 Varies (2500–3500)
Sample Type Blood (EDTA), Extracted DNA, or FTA Card Blood only

Physician Insight & Safety Protocols

Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA 9294403

“I recognize the profound uncertainty families face when a rare genetic condition is suspected. This DPM1 sequencing test delivers the molecular clarity needed to confirm or exclude CDG‑Ie with high confidence, enabling precise metabolic management and informed family planning. However, a genetic result must always be interpreted alongside full clinical findings — a negative result does not completely rule out the disorder if strong clinical suspicion remains. I strongly recommend partnering with a metabolic specialist and clinical geneticist to ensure these results are translated into the best possible care pathway for your child.”

Advisory: Medication & Pre‑Test Precautions

⚠️ Medication Stability Warning

Do not discontinue or adjust any prescribed medications without consulting your doctor. Abrupt changes to metabolic therapies can precipitate acute clinical decompensation in individuals with suspected CDG‑Ie.

Mandatory Pre‑Test Requirements

  • A genetic counselling session must be completed to construct a pedigree of affected family members before sample collection.
  • Submit a detailed clinical history including metabolic symptoms such as hypoglycemia, coagulopathy, and developmental delays.
  • No fasting required; avoid hemolyzed blood samples. For FTA cards, ensure correct finger‑prick technique.

Exclusion Criteria & Emergency Red Flags

🚫 Safety Exclusion Criteria

  • This test is not suitable for individuals who decline genetic counselling or for acute emergency diagnosis.
  • Not indicated for patients without clinical suspicion of CDG‑Ie based on metabolic screening or family history.

🚨 Immediate Emergency Red Flags

  • Seek emergency care immediately if: the patient develops severe vomiting, extreme lethargy, seizures, loss of consciousness, or signs of acute liver failure. These indicate a metabolic crisis — this genetic test is not intended for emergency management.

Patient FAQ & Clinical Guidance

1. What is the DPM1 CDG‑Ie genetic test and who should consider it?

A: This test performs comprehensive sequencing of the DPM1 gene to identify pathogenic mutations responsible for Congenital Disorder of Glycosylation Type Ie. It is recommended for infants and children presenting with unexplained hypotonia, hypoglycemia, coagulation abnormalities, and developmental delays. A definitive molecular diagnosis enables targeted metabolic management and accurate genetic counselling for the family.

2. How is the sample collected and what does the process involve?

A: A DHA‑licensed phlebotomist visits your home for a routine blood draw into an EDTA tube or a simple finger‑prick onto an FTA card. The specimen is transported to our laboratory using an ISO‑certified temperature‑controlled cold chain to preserve nucleic acid integrity. The entire procedure is safe, quick, and designed for minimal discomfort.

3. How long do results take and what will the report tell me?

A: Results are delivered within 3–4 weeks. The report includes a detailed interpretation of identified pathogenic variants, zygosity status, carrier status, and clinical significance. A post‑test tele‑consultation with a DHA‑registered physician is scheduled to review the findings and discuss implications for treatment and family planning.

UAE Regulatory & Data Privacy Adherence

This diagnostic service operates in full compliance 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. Clinical safety and patient consent protocols adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. All genetic data is encrypted, access‑controlled, and processed solely for diagnostic and clinical advisory purposes under the supervision of licensed healthcare professionals.

ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) | Content reviewed by Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA 9294403).

Clinical & Logistical Metadata

Test Name DPM1 Gene Congenital Disorder of Glycosylation Type Ie (CDG‑Ie) Genetic Test
Price (AED) 2800
Turnaround Time 3–4 Weeks
Sample Type / Matrix Blood (EDTA), Extracted DNA, or FTA Card
Methodology Used Next‑Generation Sequencing (NGS) – full gene coverage including all exons and flanking intronic regions
ICD‑10‑CM Code E77.8
LOINC Code 21665-7
DHA Facility License & Address License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

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