Test Price
2,800 AED✅ Home Collection Available
B4GALT1 Gene Glycosylation Disorder Type 2D (CDG-IId) Genetic Test in UAE | AED 2,800 | DHA Licensed
Executive Summary & Core Metrics
- Test: B4GALT1 gene sequencing (NGS) for confirmation of Congenital Disorder of Glycosylation Type IId.
- Price: AED 2,800 (inclusive of genetic counselling and courier).
- Turnaround Time: 3–4 weeks from sample receipt.
- Sample Type: Whole blood (3–5 ml in EDTA tube) or FTA card dried blood spot.
- Home Collection: VIP Mobile Phlebotomy & temperature-controlled cold-chain courier, available daily 8 AM – 11 PM.
- Accuracy: 99.9% diagnostic sensitivity (ISO 9001:2015 accredited lab).
Test Overview & Methodology
This next‑generation sequencing (NGS) test performs full‑gene coverage of the B4GALT1 gene, including exonic regions, intronic boundaries, and detection of copy‑number variants (CNVs). It confirms or rules out CDG‑IId, a rare autosomal recessive disorder of protein N‑glycosylation. Early molecular diagnosis is critical for initiating metabolic management and providing accurate recurrence risk counselling.
The test is indicated for individuals with unexplained developmental delay, hypotonia, failure to thrive, or epilepsy, particularly when biochemical testing (serum transferrin isoelectric focusing) suggests a congenital disorder of glycosylation.
| Feature | Our B4GALT1 NGS Test | Alternative: Sanger Sequencing |
|---|---|---|
| Methodology | Next‑Generation Sequencing (full gene + CNV detection) | Targeted Sanger (exons only, no CNVs) |
| Diagnostic Yield | >99% sensitivity (point mutations, indels, CNVs) | Up to 95% (point mutations only) |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Sample Requirements | Whole blood (EDTA), extracted DNA, or FTA card | Whole blood or DNA only |
Physician Insight & Safety Protocols
“This NGS test provides a definitive molecular answer for a complex metabolic presentation. However, genetic results must always be interpreted in the context of full biochemical and clinical findings. I strongly recommend that post‑test counselling be conducted by a certified geneticist or metabolic specialist before any treatment decisions are made.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License 9294403
Medication & Clinical Advisory
Important Pre‑Test Guidance
Do not discontinue any prescribed medications or alter therapies without consulting the treating physician. The genetic test result is not a substitute for emergency medical care. If the patient experiences acute symptoms such as seizures, severe vomiting, or loss of consciousness, seek immediate hospital assessment.
Exclusion Criteria & Red Flags
- Exclusion: Inability to provide valid informed consent; refusal to complete mandatory pre‑ and post‑test genetic counselling; specimen collection from a patient in acute metabolic crisis (stabilisation required first).
- Emergency Red Flags: Persistent vomiting, lethargy, seizures, hypoglycaemia, or loss of consciousness – these require urgent hospital evaluation, not a scheduled genetic test.
- Pre‑test Requirement: A detailed clinical history and at least a three‑generation pedigree chart, preferably obtained during a genetic counselling session, must accompany the sample.
Patient FAQ & Clinical Guidance
1. What does the B4GALT1 genetic test detect?
The test identifies pathogenic variants in the B4GALT1 gene, the cause of Congenital Disorder of Glycosylation Type IId. It scans the entire coding region and detects both single‑nucleotide changes and copy‑number variants, confirming the diagnosis in symptomatic individuals and identifying asymptomatic carriers.
2. How should I prepare for this DNA test?
No fasting or medication changes are required; however, a mandatory genetic counselling session is scheduled before sample collection. A detailed three‑generation family history must be documented. Our home collection team will provide all necessary materials (FTA card, blood tubes) and ensure proper cold‑chain transport to the laboratory.
3. Is this test covered by UAE insurance?
Most UAE insurers cover genetic testing for CDG‑IId when a physician documents clinical necessity and pre‑authorisation is obtained. Our insurance desk can verify your policy and initiate direct billing before the appointment. Contact us via WhatsApp at +971 54 548 8731 for immediate confirmation.
4. How long does it take to get results?
The turnaround time is 3–4 weeks from the date the sample is received in the laboratory. Reports are delivered electronically via a secure patient portal, and a telephonic post‑test consultation with a genetic counsellor is provided at no extra charge.
UAE Regulatory & Data Privacy Adherence
- Federal Decree‑Law No. 45 of 2021 (PDPL): All patient genetic data is processed and stored exclusively within UAE borders under the Personal Data Protection Law, ensuring full encryption and confidentiality.
- Federal Law No. 2 of 2019: Use of information and communication technology in health fields – our laboratory information system and digital reporting comply fully with health ICT security standards.
- Federal Decree‑Law No. 4 of 2016: Medical liability – patient consent and safety protocols adhere to UAE medical liability regulations, including mandatory pre‑test counselling for genetic testing.
- ISO 9001:2015 Certified: Laboratory and logistics processes are audited and certified (Cert: INT/EGQ/2509DA/3139), guaranteeing international quality management standards.
- DHA Facility License No. 1143: Fully licensed healthcare facility under Dubai Health Authority, operating from Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | B4GALT1 Gene Sequencing (CDG‑IId) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted genomic DNA, or FTA card dried blood spot |
| Methodology Used | Next‑Generation Sequencing (NGS) – full gene, intronic boundaries, CNV detection |
| ICD‑10‑CM Code | E77.8 |
| LOINC Code | 83886-6 |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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