Test Price
2,800 AED✅ Home Collection Available
TWIST1 Gene Sequencing for Robinow‑Sorauf Syndrome (NGS) – Definitive Molecular Diagnosis in Dubai
Executive Summary & Core Metrics
This definitive next‑generation sequencing (NGS) test analyzes the entire coding region of the TWIST1 gene to confirm Robinow‑Sorauf syndrome with >99.9% diagnostic sensitivity and specificity. The assay is performed in an ISO 9001:2015 certified UAE reference laboratory and delivers results within 3–4 weeks. Optional telephonic post‑test clinical guidance is provided by our DHA‑licensed genetic counsellors. Premium logistics include VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM. Direct insurance support is available via WhatsApp at +971 54 548 8731. A mandatory pre‑test genetic counselling session ensures informed consent and proper pedigree analysis.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (8 AM – 11 PM daily).
- Insurance Support: Direct billing verification via WhatsApp at +971 54 548 8731.
- Clinical Safety: All results must be correlated with clinical findings; a pre‑test genetic counselling session is mandatory.
Test Overview & Methodology
TWIST1‑associated Robinow‑Sorauf syndrome is a rare autosomal dominant disorder characterized by craniofacial dysmorphism, limb anomalies, and developmental delay. This NGS panel provides a comprehensive mutation screen of the entire TWIST1 gene, including all exons and flanking intronic regions, enabling definitive molecular confirmation and guiding multidisciplinary care. Unlike single‑variant or limited‑panel tests, our approach guarantees the highest clinical yield by detecting single nucleotide variants, small insertions/deletions, and copy number alterations across the entire gene.
| Feature | Our NGS Test (UAE Reference Lab) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% sensitivity and specificity; complete gene coverage | Limited to known mutations; may miss rare variants |
| Methodology | Next‑Generation Sequencing (Illumina NovaSeq) with bioinformatic verification | Targeted Sanger sequencing; slow, labor‑intensive |
| Turnaround Time | 3–4 weeks (express option available) | 6–8 weeks typical |
Physician Insight & Safety Protocols
“A positive TWIST1 finding should always be integrated with the patient’s full clinical picture. This test is not a substitute for expert clinical evaluation; it provides the molecular anchor that, together with dysmorphology and imaging, secures the diagnosis. We emphasize that any decision to alter or discontinue medication must be made only in consultation with the treating physician. This genetic result is a diagnostic tool, not a therapeutic directive.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.
⚠️ Critical Exclusion Criteria & Safety Notice
- Exclusion Criteria: Patients with active severe infection or unstable medical condition should postpone sample collection until clinically stable. The test is not suitable for emergency diagnosis.
- Medication Alert: Do not discontinue prescribed medications without direct instruction from your doctor. This test does not alter ongoing treatments.
- Emergency Red Flags: If the patient experiences acute respiratory distress, seizures, or sudden loss of motor function, seek immediate emergency care; this test is elective and not for acute crisis.
Patient FAQ & Clinical Guidance
1. What does the TWIST1 NGS test detect and how is it different from a standard genetic panel?
It precisely identifies single nucleotide variants, small insertions/deletions, and copy number alterations across the entire TWIST1 gene, guaranteeing a definitive molecular diagnosis of Robinow‑Sorauf syndrome, whereas standard panels may only target common variants.
2. Is a blood sample enough, and can the collection be done at home?
Absolutely—a single blood draw, extracted DNA, or even a dried blood spot on an FTA card is sufficient. Our licensed mobile phlebotomy team provides secure VIP home collection across all Emirates from 8 AM to 11 PM daily.
3. How long do results take, and is a post‑test consultation included?
Results are available within 3–4 weeks. The package includes a mandatory pre‑test counselling session and an optional telephonic post‑test consultation with a DHA‑licensed genetic counsellor to interpret the report and discuss next steps.
UAE Regulatory & Data Privacy Adherence
✅ Regulatory Compliance & Data Protection
This laboratory service adheres to Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) for patient data privacy, Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for digital health security, and Federal Decree‑Law No. 4 of 2016 on Medical Liability for clinical safety and informed consent. The facility is fully licensed by the Dubai Health Authority (DHA License: 1143) and operates under the corporate branding of DNA Labs UAE. All processing meets ISO 9001:2015 certification standards.
Clinical & Logistical Metadata
| Test Name | TWIST1 Gene Sequencing for Robinow‑Sorauf Syndrome (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (express option available) |
| Sample Type / Matrix | Whole blood (3–5 mL in EDTA tube), or extracted DNA (5 µg minimum) |
| Methodology Used | Next‑Generation Sequencing (NGS) on Illumina NovaSeq with bioinformatic analysis |
| ICD-10-CM Code | Q87.0 (Congenital malformation syndromes predominantly affecting facial appearance) |
| LOINC Code | 81307-2 (TWIST1 gene full sequencing in blood) |
| DHA Facility License & Address | DNA Labs UAE — DHA License: 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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