B4GALT1 Gene Sequencing (CDG Type IId) in UAE | 2800 AED | DHA Licensed Lab

Executive Summary & Core Metrics

This advanced NGS test delivers 99.9% diagnostic sensitivity for B4GALT1-related Congenital Disorder of Glycosylation Type IId, processed under ISO 9001:2015 certified protocols. Patients receive VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (available daily from 8 AM to 11 PM), secure courier logistics, and immediate post-test clinical guidance via encrypted tele-consultation. Direct insurance billing verification is available through WhatsApp +971 54 548 8731.

Test Overview & Methodology

The B4GALT1 gene encodes an enzyme critical for proper protein glycosylation; pathogenic variants cause CDG Type IId, a multisystem disorder often presenting with severe neurological impairment, hypotonia, and developmental delay. This single‑gene NGS analysis fully sequences the coding regions and splice sites to identify single nucleotide variants, small indels, and copy number changes, giving neurologists and clinical geneticists a definitive molecular diagnosis for targeted management.

Feature	Our Test (DNA Labs UAE)	Closest Alternative
Methodology	Full‑gene NGS with CNV detection (LC‑MS/MS confirmation available)	Sanger sequencing (misses large deletions/duplications)
Turnaround Time	3–4 weeks	6–8 weeks
Sample Options	Whole blood, extracted DNA, or dried blood spot (FTA card)	Often requires fresh blood only
Clinical Support	Genetic counselling session + post‑test tele‑guidance	Report only

Physician Insight & Safety Protocols

Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403, notes: “Every B4GALT1 result must be interpreted in the context of the patient’s full clinical picture and family history. A negative report does not exclude other glycosylation defects, and a variant of uncertain significance requires multidisciplinary correlation. This test is a pivotal step toward personalized management, not an isolated answer.”

Advisory: Medication Continuation

Do Not Discontinue Prescribed Medications

Never stop anticonvulsants, neurologically active drugs, or metabolic supplements without direct consultation with your treating physician. Abrupt cessation may lead to seizure recurrence or metabolic decompensation.

Exclusion Criteria & Emergency Red Flags

Do not proceed if the patient is hemodynamically unstable or acutely encephalopathic without physician clearance.
Ensure mandatory genetic counselling and informed consent prior to sample collection, as recommended by UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
If the patient develops new‑onset seizures, loss of consciousness, or severe respiratory distress at any point, seek emergency medical care immediately – the test does not replace acute clinical evaluation.

Patient FAQ & Clinical Guidance

1. What does the B4GALT1 gene test detect and why is it ordered?

This test identifies disease‑causing mutations in the B4GALT1 gene, providing a definitive molecular diagnosis for Congenital Disorder of Glycosylation Type IId, which typically manifests with infantile hypotonia, psychomotor delay, and seizures. Neurologists and clinical geneticists order it to confirm the etiology and guide personalized treatment.

2. How is the test performed and what sample types are accepted?

A standard peripheral whole blood sample, extracted DNA, or a dried blood spot on an FTA card is collected. Our phlebotomy team uses VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection for eligible patients. The sample is then analyzed using full‑gene NGS with CNV detection, ensuring maximum accuracy.

3. How will I receive results and what support is provided?

Your encrypted report is delivered within 3 to 4 weeks via a secure patient portal. A post‑test tele‑consultation with a clinical genetic counsellor is included to explain findings, discuss implications for family members, and outline next clinical steps.

UAE Regulatory & Data Privacy Adherence

This test is fully compliant with UAE 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 adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. All data is encrypted and processed under ISO 9001:2015 certified protocols (Cert: INT/EGQ/2509DA/3139).

Clinical & Logistical Metadata

Test Name	B4GALT1 Gene Sequencing (CDG Type IId)
Price (AED)	2,800
Turnaround Time	3–4 weeks
Sample Type / Matrix	Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card)
Methodology Used	Full‑gene NGS with CNV detection (LC‑MS/MS confirmation available)
ICD-10-CM Code	E77.8
LOINC Code	48000-4
DHA Facility License & Laboratory Address	License: 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE