Test Price
2,800 AED✅ Home Collection Available
GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
This Next‑Generation Sequencing (NGS) test screens the GLE1 gene for pathogenic variants causing Lethal Congenital Contracture Syndrome Type 1 (LCCS1). It provides definitive molecular confirmation with >99.9% diagnostic sensitivity via ISO‑accredited processing. Our service includes VIP mobile phlebotomy with temperature‑controlled cold‑chain home collection across all UAE emirates, available daily from 8 AM to 11 PM. Post‑test telephonic genetic counselling with a consultant medical geneticist is included. Direct insurance billing verification is available through WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The test identifies pathogenic variants in the GLE1 gene associated with autosomal recessive LCCS1, characterized by fetal akinesia, multiple joint contractures, and pulmonary hypoplasia leading to early neonatal death. Full coding exons ±20 bp splice junctions are analyzed with a mean depth >1000× using Illumina® NGS technology. Bioinformatic variant filtering and ACMG classification ensure high accuracy. Sanger sequencing may be used to confirm specific familial variants if requested.
| Feature | Our GLE1 NGS Test | Sanger Sequencing (familial variant) |
|---|---|---|
| Precision & Coverage | Full coding exons ±20 bp splice junctions; >1000× mean depth | Targeted analysis of a single known familial variant |
| Methodology | Next‑Generation Sequencing (Illumina®) with bioinformatic variant filtering | Capillary (Sanger) sequencing |
| Turnaround Time | 3–4 weeks | 2–4 weeks (depending on laboratory) |
| Report Contents | ACMG‑classified variants, homozygous/compound heterozygous confirmation | Presence/absence of the targeted variant only |
Physician Insight & Safety Protocols
“As a consultant medical geneticist supporting families affected by Lethal Congenital Contracture Syndrome Type 1, I emphasize that this NGS test provides the molecular confirmation needed for accurate genetic counselling and recurrence risk estimation. Results must always be correlated with detailed clinical and radiological findings. Our multidisciplinary approach ensures families receive comprehensive care.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Pre‑Test Advisory
A clinical history review and a formal genetic counselling session to document a family pedigree are mandatory before testing. Acceptable specimens include Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card. Sample collection is performed by our ISO‑certified cold‑chain mobile phlebotomy team. Do not discontinue prescribed medications or supportive care without consulting your physician.
Exclusion Criteria
- Infant in acute cardiopulmonary crisis requiring uninterrupted intensive care.
- Sample collection from a deceased neonate without legally authorized consent.
- Inability to provide a 2 mL EDTA whole‑blood or an adequate DNA sample.
Red Flags – Seek Immediate Medical Attention:
Sudden respiratory arrest, severe cyanosis unresponsive to oxygen, or seizure activity indicate urgent NICU intervention. Genetic testing should not delay emergency care.
Patient FAQ & Clinical Guidance
1. What is GLE1 gene testing and why is it done?
This test identifies pathogenic variants in the GLE1 gene that cause Lethal Congenital Contracture Syndrome Type 1 (LCCS1). It enables accurate diagnosis, genetic counselling, and recurrence risk assessment for families. It is primarily used for neonates with arthrogryposis and pulmonary hypoplasia, and for carrier screening in couples with a positive family history.
2. How long does it take to receive results and what sample is needed?
Typical turnaround time is 3 to 4 weeks from receipt of a properly collected EDTA whole‑blood, extracted DNA, or dried blood spot on FTA card. VIP home collection is available 8 AM–11 PM across all UAE emirates, with samples transported in temperature‑controlled ISO‑certified containers to maintain DNA integrity.
3. Is my genetic data protected under UAE law?
Absolutely. All genetic testing complies 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. Additionally, clinical safety requirements follow Federal Decree‑Law No. 4 of 2016 on Medical Liability. Data is stored on encrypted, access‑controlled servers and never shared without explicit consent.
UAE Regulatory & Data Privacy Adherence
Our laboratory operates under DHA Facility License Number 1143 and is ISO 9001:2015 certified. All data handling adheres to Federal Decree‑Law No. 45 of 2021 (PDPL) and Federal Law No. 2 of 2019 for health ICT security. Clinical safety protocols are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability. Patient consent and confidentiality are strictly maintained.
Clinical & Logistical Metadata
| Test Name | GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 Genetic Test |
| Price (AED) | 2 800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, Dried Blood Spot on FTA Card |
| Methodology Used | Next‑Generation Sequencing (NGS) with bioinformatic variant filtering |
| ICD‑10‑CM Code | Q68.8 |
| LOINC Code | 55115-1 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians