Test Price
2,800 AED✅ Home Collection Available
EXT2 Gene Sequencing (Seizures, Scoliosis, Macrocephaly Syndrome) NGS Test in UAE – 2,800 AED
Executive Summary & Core Metrics
Gold‑Standard Molecular Diagnosis – 99.9% diagnostic sensitivity via ISO 9001:2015 accredited Next‑Generation Sequencing. Comprehensive analysis of the full EXT2 gene uncovers pathogenic variants driving seizures, progressive scoliosis, and macrocephaly. All testing is performed under DHA‑licensed facility (License 1143) and fully 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.
Post‑test support includes a complimentary telephonic consultation with a consultant medical geneticist to discuss results and plan management.
VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection, daily 8 AM – 11 PM.
Bilingual telephonic clinical guidance after result release.
Test Overview & Methodology
This single‑gene NGS test sequences the entire EXT2 gene, precisely identifying variants responsible for the syndromic triad of seizures, scoliosis, and macrocephaly. It is the first‑line molecular tool for dysmorphology clinics, guiding targeted anti‑epileptic therapy, orthopaedic planning, and family cascade screening. The proprietary bioinformatics pipeline ensures detection of exonic, intronic, and splice‑site variants with high confidence.
| Parameter | Our EXT2 NGS Test | Alternative (Sanger Sequencing) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity (full gene, intron‑exon boundaries) | ~85‑90% (limited to pre‑selected exons) |
| Method | Next‑Generation Sequencing (NGS) with proprietary bioinformatics verification | Sanger sequencing of select exons |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
| Sample Options | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA card) | Whole Blood only |
Physician Insight & Safety Protocols
"As a consultant medical geneticist, I have seen how recurrent seizures and progressive skeletal changes impact families. This NGS test provides definitive molecular confirmation of the EXT2‑related syndrome, enabling personalised anti‑epileptic strategies and timely orthopaedic intervention. However, every result must be interpreted alongside accurate clinical phenotyping and family history."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
⚠️ Do not discontinue prescribed antiepileptic medications or any other treatment without consulting your doctor. Genetic results guide future management; they do not replace acute medical care.
Exclusion Criteria & Emergency Red Flags
- Active febrile illness or unresolved status epilepticus – postpone blood draw until stable.
- Known severe bleeding diathesis or current anticoagulation (risk of haematoma).
- Emergency symptoms: prolonged seizure >5 minutes, acute respiratory distress due to severe scoliosis – call 998 immediately, do not wait for test collection.
Patient FAQ & Clinical Guidance
1. What does the EXT2 NGS test detect and how accurate is it?
This NGS test sequences the entire EXT2 gene to detect pathogenic variants causing seizures, scoliosis, and macrocephaly syndrome with 99.9% diagnostic sensitivity.
2. Why is a genetic counselling session required before blood draw?
A mandatory pedigree chart and clinical review ensure proper variant interpretation and compliance with UAE genetic testing laws, protecting minors and family data.
3. How long does it take to receive results and will a doctor explain them?
Results are delivered in 3–4 weeks, followed by a complimentary bilingual tele‑consultation with a consultant medical geneticist to discuss implications.
UAE Regulatory & Data Privacy Adherence
Your Data, Your Rights
DNA Labs UAE operates under DHA Facility License 1143 and strictly adheres 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 genetic data is encrypted, access‑controlled, and never shared without explicit consent. Clinical testing and patient consent are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability, ensuring full safety and ethical standards.
Clinical & Logistical Metadata
| Test Name | EXT2 Gene Sequencing (Seizures, Scoliosis, Macrocephaly Syndrome) – NGS |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA card) |
| Methodology Used | Next‑Generation Sequencing (NGS) with full gene coverage and bioinformatics verification |
| ICD-10-CM Code | G40.9 (Epilepsy, unspecified) |
| LOINC Code | 93835-9 (EXT2 gene targeted mutation analysis) |
| DHA Facility License & Laboratory Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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