Test Price
2,800 AED✅ Home Collection Available
DOK7 Gene Fetal Akinesia Deformation Sequence Genetic Test
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% analytical sensitivity for single nucleotide variants and small indels via ISO 9001:2015 certified NGS workflow fully aligned with DHA diagnostic standards.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across Dubai and the Northern Emirates.
- Clinical Guidance: Post-test telephonic consultation with a Consultant Medical Geneticist for result interpretation, recurrence risk assessment, and family planning advice.
- Insurance Facilitation: Direct billing verification with major UAE insurers via WhatsApp at +971545488731.
Test Overview & Methodology
The DOK7 Gene NGS Test identifies pathogenic variants in the DOK7 gene associated with fetal akinesia deformation sequence (FADS) and congenital myasthenic syndrome, providing a definitive molecular diagnosis for affected neonates and families. Next-generation sequencing on the Illumina platform enables comprehensive coverage of all coding exons, exon-intron boundaries, and selected deep intronic regions, delivering clinically actionable results with a turnaround time of 3–4 weeks.
| Parameter | Our DOK7 NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Analytical Sensitivity | >99.9% for single nucleotide variants and small indels | ~95% target region coverage |
| Gene Coverage | Full DOK7 gene including exon/intron boundaries, deep intronic regions | Selected exons only, may miss deep intronic mutations |
| Turnaround Time | 3–4 weeks with online report | 4–6 weeks |
| Methodology | Next‑Generation Sequencing (Illumina platform) with bioinformatic analysis and orthogonal confirmation | Conventional Sanger sequencing, lower throughput |
Physician Insight & Safety Protocols
Clinical Perspective from Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
“In my practice, the DOK7 NGS test serves as a critical tool for confirming the molecular basis of fetal akinesia deformation sequence and congenital myasthenic syndrome. It is essential, however, that results are interpreted within the full clinical picture including family history and multidisciplinary evaluation. A negative sequencing result does not exclude all genetic etiologies, and post-test genetic counseling is strongly recommended to address recurrence risks and reproductive options.”
Important Clinical Advisory
Do not alter or discontinue any prescribed medications or treatments without consulting your managing physician. This test is a diagnostic aid and should not replace clinical judgment.
Patient Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Infants requiring immediate life‑support for severe cardiac or respiratory failure; active maternal hemorrhage or unstable condition precluding sample collection.
- Emergency Red Flags: Sudden cessation of fetal movement, preterm labour with non‑reassuring fetal status, neonatal respiratory distress or severe hypotonia requiring NICU – seek urgent medical attention.
Patient FAQ & Clinical Guidance
1. What is the DOK7 gene test used for?
This test detects pathogenic variants in the DOK7 gene causing fetal akinesia deformation sequence and congenital myasthenic syndrome, enabling precise molecular diagnosis, prognosis estimation, recurrence risk counseling, and informed family planning decisions.
2. How is the sample collected and what is the turnaround time?
A peripheral whole blood sample is collected via a simple venipuncture performed during a VIP mobile phlebotomy home visit or at a DHA-licensed clinic. The final clinical report is delivered within 3 to 4 weeks through our secure online portal.
3. Is this test covered by insurance in the UAE?
We provide direct billing verification with most major UAE health insurers. Forward your insurance card details via WhatsApp to +971545488731 for an immediate pre‑approval eligibility check before sample collection.
UAE Regulatory & Data Privacy Adherence
Compliance & Accreditation Framework
- DHA Facility License Number: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
- All genetic data handling 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.
- Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) – laboratory operations and quality management system.
- Government-Approved Mobile Phlebotomy Service under DHA regulations, available daily from 8 AM to 11 PM.
Clinical & Logistical Metadata
| Test Name | DOK7 Gene Fetal Akinesia Deformation Sequence Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood or extracted DNA (blood drawn via VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection) |
| Methodology Used | Next‑Generation Sequencing (Illumina platform) with bioinformatic analysis and orthogonal confirmation |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 21636-6 |
| DHA Facility License & Address | License #1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE (DNA Labs UAE) |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians