Test Price
2,800 AED✅ Home Collection Available
MYO18B Gene Sequencing for Klippel‑Feil Syndrome Type 4 (Autosomal Dominant with Myopathy and Facial Dysmorphism) in Dubai | 2 800 AED | DHA‑Licensed Molecular Diagnosis
Executive Summary & Core Metrics
TRUST 99.9% diagnostic sensitivity via ISO 15189‑aligned targeted NGS processing with 100× mean depth across all coding and flanking regions of MYO18B.
LOGISTICS VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection — available daily 8 AM to 11 PM throughout Dubai and the Northern Emirates.
GUIDANCE Complimentary post‑test telephonic clinical interpretation by a DHA‑licensed Consultant Medical Geneticist — included in the published price.
INSURANCE Direct billing verification via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
The MYO18B gene sequencing test identifies pathogenic single‑nucleotide variants and small indels in the MYO18B gene responsible for Klippel‑Feil syndrome type 4 (KFS4) — an autosomal dominant disorder characterised by congenital cervical spine fusion, progressive myopathy, and distinctive facial dysmorphism. This targeted next‑generation sequencing (NGS) assay delivers a definitive molecular diagnosis within three to four weeks, enabling families in the UAE to access precise care planning, surveillance protocols, and reproductive counselling.
A detailed pre‑test clinical history including age of onset, specific dysmorphic features, family history of cervical fusion or myopathy, and a three‑generation pedigree chart is obtained via a mandatory telehealth genetic counselling session arranged before sample collection. No fasting or medication withholding is required for the blood draw.
| Feature | Our Test (MYO18B‑Targeted NGS) | Closest Alternative (Whole‑Exome Sequencing) |
|---|---|---|
| Precision / Sensitivity | >99.9% for MYO18B coding & flanking regions | >98% for exonic variants; may miss deep intronic or regulatory changes |
| Methodology | Targeted NGS (100 × mean depth) with Sanger confirmation of all reported variants | WES (~80 × mean depth); orthogonal validation required |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Price (UAE) | 2 800 AED | 5 000–7 500 AED |
| Clinical Focus | Specifically answers the KFS4 diagnostic question | Broad screening; risk of incidental findings requiring further workup |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh — Consultant Medical Genetics, DHA Registration ID: 9294403 — states: “When a child or adult presents with neck mobility limitations, muscle weakness, and subtle facial differences, the clinical suspicion of Klippel‑Feil syndrome type 4 warrants a targeted genetic answer. The MYO18B sequencing test provides that clarity in a focused, cost‑effective manner. I encourage families to pair the result with a comprehensive clinical evaluation — the genotype is a guide, not the whole story.”
⚠️ Advisory — Medication Continuity
Continue all prescribed therapies including muscle relaxants, analgesics, and any anticonvulsant or respiratory support medications unless explicitly directed otherwise by your treating physician. Genetic test results do not warrant immediate changes to an existing medical regimen.
⛔ Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: This test is not intended for asymptomatic general population screening; it requires a clinical suspicion of KFS4 based on dysmorphology assessment and/or documented myopathy.
- Exclusion: Patients with severe bleeding disorders must obtain haematologist clearance before venipuncture; an alternative FTA card blood spot collection may be considered.
- Exclusion: Individuals under 18 years require parental or guardian consent in compliance with Federal Decree‑Law No. 4 of 2016 on Medical Liability; the ordering physician must document assent during the pre‑test counselling session.
- Red Flag – Seek Emergency Care Immediately: Sudden respiratory difficulty, severe muscle weakness leading to immobility, or acute neck pain accompanied by neurological signs (numbness, loss of bladder or bowel control) requires immediate emergency department evaluation. This genetic test is not a substitute for acute clinical assessment.
- Red Flag: New‑onset facial asymmetry with drooling or swallowing difficulties in a known KFS patient warrants urgent neurological consultation, not solely genetic confirmation.
- ✅ Our mobile phlebotomy team is trained to recognise these signs and will escalate to emergency services if needed during home collection.
Patient FAQ & Clinical Guidance
1. What does the MYO18B gene test reveal?
Answer: The test detects pathogenic variants in the MYO18B gene that cause Klippel‑Feil syndrome type 4 with associated myopathy and facial dysmorphism. It provides a definitive molecular diagnosis when clinical features are suggestive, guiding surveillance for cervical spine instability, respiratory complications, and informing reproductive options for at‑risk family members.
2. How is the sample collected?
Answer: A peripheral whole blood sample (3–5 mL in EDTA) is collected via our VIP mobile phlebotomy service at your home or office — no fasting or special preparation is needed. Alternatively, a single drop of blood on an FTA card can be used, making the process convenient even for infants. The sample is transported under temperature‑controlled cold chain to our Dubai Healthcare City laboratory.
3. What is the turnaround time and total cost?
Answer: Results are available within 3 to 4 weeks from sample receipt. The all‑inclusive price is 2 800 AED, which covers the targeted NGS assay, Sanger confirmation of all reported variants, the mandatory pre‑test genetic counselling session, and a post‑result telephonic interpretation by our Consultant Medical Geneticist. Direct insurance billing verification can be arranged via WhatsApp.
4. Who should consider this test?
Answer: Individuals of any age with clinical suspicion of Klippel‑Feil syndrome — particularly those presenting with congenital cervical spine fusion, limited neck range of motion, low posterior hairline, myopathy, and/or characteristic facial features (asymmetric facies, micrognathia, cleft palate). A three‑generation family history of similar findings further raises the index of suspicion.
5. Will insurance cover the cost?
Answer: Many UAE health insurance plans provide coverage for medically indicated genetic tests when ordered by a specialist. We offer direct billing verification — send your policy details via WhatsApp to +971 54 548 8731 and our team will confirm your coverage before sample collection.
UAE Regulatory & Data Privacy Adherence
Your genetic data is protected under UAE federal law.
- Data Privacy: All sequencing data, clinical reports, and personal identifiers are handled in strict compliance 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.
- Clinical Safety & Consent: Patient consent, including parental consent for minors, is obtained and documented per Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Laboratory Accreditation: DNA Labs UAE operates under DHA Facility License No. 1143 and adheres to ISO 15189 standards for medical laboratory quality and competence.
- Data Retention & Destruction: Raw sequencing files and residual DNA specimens are stored for a defined period per UAE health authority guidelines and are securely destroyed thereafter.
Clinical & Logistical Metadata
| Test Name | MYO18B Gene Sequencing for Klippel‑Feil Syndrome Type 4 (Autosomal Dominant with Myopathy and Facial Dysmorphism) |
| Price (AED) | 2 800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or FTA card blood spot |
| Methodology Used | Targeted Next‑Generation Sequencing (NGS) with 100× mean depth; Sanger confirmation of all reported variants |
| ICD-10-CM Code | Q76.1 (Klippel‑Feil syndrome) |
| LOINC Code | 86283-0 (MYO18B gene sequencing) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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