Test Price
2,800 AED✅ Home Collection Available
GDF6 Gene Klippel‑Feil Syndrome Type 1 Autosomal Dominant NGS Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Molecular Processing (Cert: INT/EGQ/2509DA/3139).
VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection – available daily 8 AM–11 PM.
Complimentary Telephonic Post‑Test Clinical Guidance with a DHA‑licensed genetic counselor for result interpretation.
Test Overview & Methodology
This definitive next‑generation sequencing (NGS) test analyses the entire GDF6 gene to detect pathogenic variants underlying Klippel‑Feil Syndrome Type 1 (autosomal dominant, OMIM 118100). Performed at our DHA‑licensed facility (license 1143) in Dubai Healthcare City, the test provides clinically actionable results within 3–4 weeks.
Pre‑test genetic counselling is mandatory to draw a comprehensive pedigree chart for affected family members and to ensure informed consent, in compliance with Federal Decree‑Law No. 4 of 2016 on Medical Liability and Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL).
| Feature | Our Test (GDF6 NGS) | Closest Alternative (Skeletal Dysplasia Panel) |
|---|---|---|
| Methodology | Full‑gene NGS + bioinformatic analysis | Multi‑gene panel (includes ~200 genes) |
| Diagnostic Precision | 99.9% sensitivity for GDF6 variants | Variable; often lower coverage per gene |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Price | 2800 AED | >5000 AED (often uncovered by insurance) |
| Specialist Interpretation | Accompanied by genetic counselling note | May require separate interpretation fee |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I emphasize that a positive GDF6 result must be correlated with cervical spine MRI, echocardiography, and detailed clinical examination. This test is not a standalone diagnostic tool; a negative result does not exclude Klippel‑Feil syndrome and should be interpreted in context of the patient’s whole phenotype and family history. Genetic counselling is integral to the process.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice
Do not discontinue any prescribed medication or therapy without consulting your treating physician. Genetic test results should never be used to alter treatment without direct medical supervision.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Recent blood transfusion (<2 weeks), pregnancy without prior genetic counselling, inability to provide informed consent (absent legal guardian consent for minors as mandated by Federal Decree‑Law No. 4 of 2016 on Medical Liability).
- Emergency Red Flags: Sudden onset of severe neck pain, numbness/tingling in arms or legs, loss of bladder or bowel control, or any acute neurological deficit – seek immediate emergency medical care. These symptoms are unrelated to the blood draw procedure but may be linked to the syndrome’s spinal instability.
- Paediatric Safeguard: All tests for individuals under 18 require documented parental/guardian consent and a completed genetic counselling session in accordance with the UAE Child Protection Law.
Patient FAQ & Clinical Guidance
1. What is the GDF6 gene test for Klippel‑Feil syndrome?
This test identifies pathogenic variants in the GDF6 gene responsible for autosomal dominant Klippel‑Feil syndrome type 1 with 99.9% accuracy. The analysis uses next‑generation sequencing (NGS) of the complete gene and is interpreted by DHA‑licensed geneticists. It is suitable for individuals with clinical signs of cervical vertebral fusion, a positive family history, or for asymptomatic relatives seeking carrier status clarification.
2. How long does it take to get results?
Results are typically available within 3 to 4 weeks from the date the laboratory receives your blood sample. This timeline includes DNA extraction, library preparation, sequencing, and expert variant interpretation. Urgent requests for clinically critical cases can be prioritised after discussion with our genetic counselling team.
3. Is home sample collection available?
Yes, we offer hospital‑grade home blood collection by DHA‑licensed phlebotomists using ISO‑certified cold‑chain transport. The service operates daily from 8 AM to 11 PM across all Emirates. A trained professional will collect the sample, maintain temperature stability, and deliver it directly to our central genetics laboratory. WhatsApp +971545488731 to book.
UAE Regulatory & Data Privacy Adherence
Compliance & Accreditation
- DHA Facility License: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
- Corporate Lab Branding: DNA Labs UAE
- Data Protection: Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL)
- Health Information: Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields
- All results are reviewed by a DHA‑licensed Consultant Medical Genetics (Lina Osama Zaki Quteineh, DHA Registration ID: 9294403)
Clinical & Logistical Metadata
| Test Name | GDF6 Gene Sequencing (Klippel‑Feil Syndrome Type 1) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral Blood – EDTA Whole Blood (3–5 mL) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full gene coverage |
| ICD-10-CM Code | Q76.1 (Klippel‑Feil syndrome) |
| LOINC Code | 96653-6 (GDF6 gene mutation analysis in Blood) |
| DHA Facility License & Address | License 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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