Test Price
2,800 AED✅ Home Collection Available
EXT1 Gene (Langer‑Giedion Syndrome) NGS Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Executive Summary
This comprehensive molecular diagnostic test provides definitive identification of pathogenic variants in the EXT1 gene associated with Langer‑Giedion syndrome (trichorhinophalangeal syndrome type II) and hereditary multiple exostoses. Utilising next‑generation sequencing with CNV detection, the assay delivers 99.9% diagnostic sensitivity through an ISO 9001:2015 accredited laboratory facility in Dubai Healthcare City.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity – ISO 9001:2015 accredited wet‑lab and bioinformatics pipeline.
- Premium Logistics: VIP Mobile Phlebotomy and Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary telephonic post‑test clinical interpretation with a DHA‑licensed Consultant Medical Genetics specialist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731. Most major UAE insurers covered.
DHA Licensed
Facility No. 1143
ISO 9001:2015
Cert: INT/EGQ/2509DA/3139
Test Overview & Methodology
The EXT1 Gene (Langer‑Giedion Syndrome) NGS test is a definitive molecular diagnosis tailored for dysmorphology and hereditary multiple exostoses evaluation. Using whole blood, extracted genomic DNA, or a single dried blood spot on an FTA card, the assay interrogates the full EXT1 coding region and flanking intronic sequences for single‑nucleotide variants, small insertions/deletions, and large contiguous gene deletions involving the adjacent TRPS1 region. This comprehensive approach is essential for confirming trichorhinophalangeal syndrome type II and guiding lifelong multidisciplinary care including orthopaedic surveillance, developmental support, and family counselling.
Pre‑Test Preparation
- A detailed clinical history and three‑generation pedigree must be provided prior to sample collection.
- A mandatory genetic counselling session (onsite or telehealth) will be arranged to discuss inheritance patterns, possible outcomes, and psychosocial implications.
- No drug or dietary restrictions are required before blood draw; maintain usual medication schedule unless advised otherwise by your physician.
| Feature | Our Test (EXT1 NGS + CNV) | Closest Alternative (Sanger / CMA) |
|---|---|---|
| Precision | >99.9% sensitivity for all variant types including contiguous deletions | Sanger only detects point mutations (~90% for sequence variants); CMA misses intragenic copy‑neutral rearrangements |
| Method | NGS (Next‑Generation Sequencing) with MLPA confirmation of deletion breakpoints | Sanger sequencing limited to coding regions ± chromosomal microarray |
| Speed | 3–4 weeks from sample receipt | Sanger ~2 weeks (partial); CMA ~3 weeks (no sequence data); combined may require 5+ weeks |
| Regulatory | DHA‑licensed, ISO 9001:2015, compliant with UAE PDPL and Federal Law No. 2 of 2019 | Often offshore labs without UAE genetic testing license |
Physician Insight & Safety Protocols
“The EXT1 NGS test provides definitive molecular confirmation of Langer‑Giedion syndrome and hereditary multiple exostoses by detecting pathogenic point mutations, indels, and large deletions within the EXT1 gene. Results must be interpreted in the context of clinical findings, skeletal imaging, and family pedigree. A positive finding warrants prompt paediatric genetics consultation; a negative result does not exclude all genetic aetiologies and may require broader genomic investigation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Safety Advisory
⚠ Medication Continuation
Do not discontinue prescribed medication without consulting your doctor. Many individuals with Langer‑Giedion syndrome require ongoing therapy for pain management, growth support, or post‑surgical recovery; abrupt cessation may lead to serious clinical consequences. Always consult your treating physician before making any changes to medication regimens.
Exclusion Criteria & Emergency Red Flags
🚨 Critical Contraindications
- Exclusion: Active febrile infection, severe anaemia (Hb < 7 g/dL), or known coagulopathy unless cleared by a haematologist.
- Exclusion: Children under 2 years must have a paediatrician‑supervised collection plan.
- Red Flag: Sudden neurological deterioration, uncontrollable seizures, or acute respiratory distress in a suspected genetic syndrome — go directly to the nearest emergency department before scheduling genetic testing.
Patient FAQ & Clinical Guidance
1. How accurate is the EXT1 NGS test for diagnosing Langer‑Giedion syndrome, and what types of genetic changes can it detect?
With 99.9% diagnostic sensitivity for single‑nucleotide variants and large deletions, this test is the gold‑standard molecular assay for Langer‑Giedion syndrome in the UAE. It detects point mutations, small insertions/deletions, and contiguous gene deletions involving EXT1 and the adjacent TRPS1 region. Rare deep intronic variants or balanced rearrangements may require complementary testing methods.
2. What does the 2,800 AED price include, and how is the sample collected safely at home?
The 2,800 AED covers VIP Mobile Phlebotomy by a DHA‑licensed nurse, ISO‑certified temperature‑controlled cold‑chain transport, full NGS sequencing with copy‑number analysis, clinical interpretation, and a tele‑consultation to explain results. We accept children and adults; a single blood drop on an FTA card is an alternative if venipuncture is difficult. Home collection is available daily from 8 AM to 11 PM.
3. Are my genetic data protected under UAE law, and can the sample be used for research?
All genetic data is protected under 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. No identifiable results are shared without explicit consent. Samples are processed exclusively in our DHA‑licensed facility at Dubai Healthcare City and are not used for research unless a separate IRB‑approved consent is signed.
4. Who should consider this genetic test, and what are the implications of a positive result?
This test is indicated for individuals with clinical features suggestive of Langer‑Giedion syndrome, hereditary multiple exostoses, or unexplained dysmorphic features with intellectual disability. A positive result confirms the diagnosis and enables targeted surveillance for skeletal complications, hearing impairment, and potential malignant transformation of exostoses. Family cascade testing and reproductive counselling are strongly recommended following a positive finding.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
This diagnostic service operates in full compliance with the UAE legislative framework governing genetic testing and patient data protection:
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – governs the collection, processing, and storage of personal and genetic data with strict consent and confidentiality requirements.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulates health information systems, electronic medical records, and telemedicine practices.
- Federal Decree‑Law No. 4 of 2016 on Medical Liability – establishes the legal framework for clinical practice, patient consent, and professional accountability in diagnostic procedures.
- DHA Facility License No. 1143 – issued by the Dubai Health Authority for genetic testing services at Premises 105, Floor 1, Building 33, Dubai Healthcare City.
All laboratory processes are ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139). Corporate lab branding: DNA Labs UAE.
Clinical & Logistical Metadata
| Test Name | EXT1 Gene (Langer‑Giedion Syndrome) NGS Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Whole blood, extracted genomic DNA, or dried blood spot (FTA card) – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily 8 AM–11 PM |
| Methodology Used | Next‑Generation Sequencing (NGS) with CNV analysis and MLPA confirmation of deletion breakpoints |
| ICD-10-CM Code | Q87.8, Q87.0, Z15.89 |
| LOINC Code | 101423-6 – EXT1 gene mutations found |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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