Test Price
2,800 AEDโ Home Collection Available
DOLK Gene (Congenital Disorder of Glycosylation Type 1M) Genetic Test in Dubai | 2800 AED
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% analytical sensitivity via ISO 9001:2015 accredited Next Generation Sequencing (NGS) workflow.
- Sample Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Post-Test Guidance: Complimentary telephonic result interpretation with a DHA-licensed Consultant Medical Genetics professional.
- Insurance Verification: Direct billing check via WhatsApp at +971 54 548 8731 (typical reply within 2 hours).
Price: 2800 AED (all inclusive) | Turnaround Time: 3โ4 Weeks
Test Overview & Methodology
This targeted NGS assay interrogates the entire coding region and selected deep intronic boundaries of the DOLK gene to detect pathogenic and likely pathogenic variants associated with Congenital Disorder of Glycosylation Type 1M (CDG-Im). CDG-Im is a rare autosomal recessive metabolic disorder characterised by defective dolichol kinase activity, leading to impaired N-glycosylation. Clinical presentation typically includes developmental delay, failure to thrive, coagulopathy, inverted nipples, abnormal fat distribution, and elevated serum transaminases. Molecular confirmation via DOLK sequencing is essential for definitive diagnosis, prognosis, family counselling, and potential therapeutic planning.
The laboratory employs a validated NGS panel with 150 bp paired-end reads on an Illumina platform, achieving mean depth of coverage >200ร across all target regions. Variant calling adheres to ACMG/AMP 2015 guidelines, and all reportable variants are confirmed by orthogonal Sanger sequencing when necessary. The analytical specificity exceeds 99.5%.
| Feature | DNA Labs UAE โ DOLK NGS Test | Alternative Approach (Sanger Sequencing) |
|---|---|---|
| Methodology | NGS โ full gene coverage including deep intronic regions; analytical sensitivity >99.9% | Conventional Sanger โ limited to selected exons; ~95โ99% sensitivity |
| Turnaround Time | 3โ4 Weeks | 6โ8 Weeks |
| Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139); DHA-licensed facility in Dubai Healthcare City | Often overseas; may lack UAE DHA licence |
| Clinical Support | Post-test tele-guidance by DHA-licensed Consultant Medical Genetics | Limited reporting; no UAE-specific counselling integrated |
| Price (AED) | 2,800 (all inclusive) | 2,500โ3,500 without integrated counselling |
Physician Insight & Safety Protocols
โReceiving a genetic diagnosis for a rare condition like CDG-Im can raise many questions. My responsibility is to ensure you understand what the result means in the context of your full clinical picture. A DOLK variant must be interpreted alongside biochemical markers, imaging, and physical examination findings. This test provides a crucial piece of the diagnostic puzzle, and I am here to guide you through every step of that process.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not stop, alter, or initiate any prescribed medication, vitamin, or supplement based solely on NGS results. Genetic findings are diagnostic aids and must always be evaluated by your treating physician before any therapeutic change.
Safety Exclusion Criteria & Emergency Red Flags
- Home Collection Exclusion: Mobile phlebotomy is not suitable for patients with acute febrile illness (>38.5ยฐC), unstable vital signs, active seizures, or suspected metabolic decompensation. Such cases must be evaluated in a clinical facility. This test is not indicated for asymptomatic individuals without a verified family history of CDG.
- Emergency Red Flags: If the patient develops sudden loss of consciousness, refractory seizures, severe respiratory distress, or rapid neurological deterioration, proceed immediately to the nearest emergency department. Do not delay urgent medical care for sample collection.
Patient FAQ & Clinical Guidance
1. What is the DOLK gene glycosylation disorder type 1M test?
This molecular genetic test sequences the DOLK gene to identify pathogenic variants that cause Congenital Disorder of Glycosylation Type 1M (CDG-Im), a rare inherited metabolic condition. The test provides a definitive molecular diagnosis for patients presenting with developmental delay, failure to thrive, coagulopathy, or abnormal transferrin glycosylation, enabling precise management and genetic counselling for the family.
2. Who should consider this test?
This test is indicated for infants, children, or adults with unexplained developmental delay, failure to thrive, seizures, coagulopathy, elevated liver enzymes, inverted nipples, abnormal fat pads, or a family history of CDG. It is particularly valuable when biochemical screening (serum transferrin isoelectric focusing) suggests a glycosylation defect, or when multiorgan involvement is present without an alternative diagnosis.
3. How is the sample collected and what is the turnaround time?
A standard peripheral whole blood sample (3โ5 mL in EDTA) is collected by sterile venipuncture. Our VIP Mobile Phlebotomy service comes to your home between 8 AM and 11 PM daily, with temperature-controlled cold-chain transport directly to our ISO 9001:2015 accredited laboratory. Results are delivered within 3 to 4 weeks from sample receipt.
4. Will my insurance cover the cost of this genetic test?
Coverage depends on your individual insurance policy and the medical necessity determination by your insurer. Our team can verify your direct billing eligibility โ send your policy details via WhatsApp at +971 54 548 8731, and we will check and reply within 2 hours.
5. What happens after I receive my result?
A complimentary telephonic consultation with our DHA-licensed Consultant Medical Genetics is scheduled to explain the result, discuss its implications for you and your family, and recommend next steps โ including referral to a metabolic specialist, biochemical confirmatory testing, or family cascade screening. A written clinical report is provided for your medical records.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
- Data Protection: All genetic and personal data are processed 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 & Consent: Patient consent and clinical safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Laboratory Accreditation: The testing facility holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and operates under DHA Facility License No. 1143.
- Data Sovereignty: All genetic sequencing and analysis are performed exclusively within DHA-licensed premises in Dubai Healthcare City, ensuring complete data residency and confidentiality.
Clinical & Logistical Metadata
| Test Name | DOLK Gene (Congenital Disorder of Glycosylation Type 1M) Genetic Test โ NGS |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM โ 11 PM |
| Methodology Used | Next Generation Sequencing (NGS) โ Illumina platform, 150 bp paired-end, mean depth >200ร, ACMG/AMP variant interpretation |
| ICD-10-CM Code | E77.8 |
| LOINC Code | 51966-8 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
Need Help with Booking or Insurance?
Our DHA-licensed patient support team is available via WhatsApp for insurance verification, appointment scheduling, and any clinical questions.
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