Test Price
2,800 AED✅ Home Collection Available
DPAGT1 Gene Glycosylation Disorder Type 1J Genetic Test – 2,800 AED – DNA Labs UAE
Executive Summary & Core Metrics
Core Metrics
- 99.9%Diagnostic Accuracy Guarantee: Ultra‑high sensitivity and specificity through Next‑Generation Sequencing (NGS) processed in our ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) accredited molecular laboratory.
- 🏥Premium Home Collection: UAE‑wide hospital‑grade home phlebotomy via ISO‑certified cold‑chain logistics (8 AM‑11 PM). Blood, DNA FTA card, or extracted DNA accepted with uncompromised pre‑analytical stability.
- 📞Post‑Test Clinical Guidance: A dedicated telephonic consultation with genetic counselling professionals to interpret results and outline next steps—included with every test.
- 💳Direct Insurance Billing: Verify your plan instantly via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The DPAGT1 Gene Glycosylation Disorder Type 1J Genetic Test is a definitive molecular diagnostic tool that sequences the entire DPAGT1 gene to detect pathogenic variants causing congenital disorder of glycosylation type 1J (CDG‑1J). This rare metabolic condition presents with neurological impairment, developmental delay, and multiorgan involvement; early genetic confirmation enables targeted management and informed family counselling.
| Feature | Our NGS Test (DPAGT1 CDG‑1J) | Closest Alternative (Single‑gene Sanger) |
|---|---|---|
| Sequencing Precision | Full‑gene NGS with bioinformatic depth >100x – captures SNVs, indels, and copy‑number variants | Targeted Sanger – only predefined exons; may miss deep intronic or structural variants |
| Turnaround Time | 3 to 4 Weeks (ISO‑accredited lab) | 4–6 Weeks (variable lab standards) |
| Clinical Reporting | Interpreted by clinical geneticists; includes pathogenicity classification per ACMG guidelines | Often limited to variant list; lacks comprehensive clinical interpretation |
Indicated Specialists & Clinical Intent
- Clinical Geneticist: Confirm CDG‑1J diagnosis, cascade family screening, and guide reproductive options.
- Pediatric Metabolic Specialist: Integrate genetic findings with biochemical phenotype for tailored metabolic therapy.
- Pediatric Neurologist: Correlate DPAGT1 variants with neurological manifestations (epilepsy, hypotonia) and adjust neuroprotective care.
Physician Insight & Safety Protocols
“This test reveals the molecular foundation of a complex neurometabolic condition. I strongly advise that every patient receive pre‑ and post‑test genetic counselling to contextualise the results within their unique clinical picture and family history. A negative result does not exclude CDG‑1J if other genes remain untested, and a positive result demands multidisciplinary follow‑up.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
⚠️ Do not discontinue any prescribed medication or metabolic supplement without consulting your managing physician. This genetic test is diagnostic, not therapeutic. Always coordinate treatment decisions with your healthcare provider.
Safety & Exclusion Criteria
- Minors (under 18): Informed consent must be obtained from a legal guardian; sample collection performed only after a certified genetic counselling session.
- Emergency Situations: This test is not suitable for acute crises. If the patient exhibits acute neurological deterioration, intractable seizures, or metabolic decompensation, proceed directly to emergency care.
- Sample Rejection: Haemolysed, clotted, or improperly stored samples will be rejected; a repeat collection will be arranged at no extra charge.
- Patient Autonomy: Testing is voluntary; individuals may withdraw consent at any stage before the laboratory processing begins.
Red Flags Requiring Immediate ER: Severe lethargy, respiratory distress, frequent/prolonged seizures, or signs of hepatic failure.
Patient FAQ & Clinical Guidance
1. What is the DPAGT1 gene glycosylation disorder type 1J test, and why might I need it?
This test sequences the DPAGT1 gene to detect mutations causing congenital disorder of glycosylation type 1J, a rare metabolic condition. It is ordered when a child or adult presents with unexplained developmental delay, hypotonia, seizures, coagulopathy, or abnormal transferrin iso‑electric focusing results. Confirming a genetic diagnosis helps guide clinical management and provides essential information for family planning.
2. How is the sample collected, and is there any special preparation?
A certified phlebotomist collects blood via a painless venipuncture; alternatively, a dried blood spot on an FTA card or previously extracted DNA can be used. No fasting is required. A mandatory pre‑test genetic counselling session (in‑person or telehealth) will document a pedigree chart of affected family members, ensuring the test is clinically appropriate and ethically consented.
3. What should I do after receiving my test results?
Within 3‑4 weeks, your personalised report will detail any identified DPAGT1 variants classified by clinical significance, along with actionable recommendations. Our team schedules a telephonic post‑test consultation to explain the findings in plain language and advise on referrals to a clinical geneticist, metabolic specialist, or neurologist. You should not make any treatment changes based solely on this; always coordinate with your healthcare provider.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License No. 1143 at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. We adhere strictly to 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. All genomic data is encrypted, access‑controlled, and handled with strict confidentiality. Our ISO 9001:2015 certification (INT/EGQ/2509DA/3139) ensures continuous quality management in every step of the diagnostic process.
Clinical & Logistical Metadata
| Test Name | DPAGT1 Gene Glycosylation Disorder Type 1J Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), dried blood spot (FTA card), or extracted genomic DNA |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene sequencing with bioinformatic depth >100x |
| ICD-10-CM Code | E77.8 |
| LOINC Code | 81309-8 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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