Test Price
2,800 AED✅ Home Collection Available
NEK1 Gene Sequencing (Short-Rib Thoracic Dysplasia Type 6 ± Polydactyly) – Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced genetic test screens the NEK1 gene via next-generation sequencing for pathogenic variants causing Short-Rib Thoracic Dysplasia Type 6 (SRTD6) with or without polydactyly. Early diagnosis enables targeted multidisciplinary management and genetic counseling for families.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing Only) |
|---|---|---|
| Precision | Full gene coverage, detects SNVs, indels, CNVs | Limited to targeted exonic regions |
| Method | NGS + Sanger validation of variants | Sanger sequencing of preselected exons |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Price | 2800 AED | 2500–3000 AED (incomplete) |
Physician Insight & Safety Protocols
“Interpreting NEK1 variants requires correlation with clinical phenotype and radiological findings. I emphasize that a genetic diagnosis does not replace ongoing pediatric and orthopedic care; families should maintain regular follow-up. This test provides critical information for prognosis and recurrence risk, but results must be integrated into a comprehensive management plan.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Advisory Notice
Medication Warning:
Do not discontinue any prescribed medication or supplements without consulting your doctor. Genetic test results do not change acute medical management decisions.
Exclusion Criteria
Safety Information & Exclusion Criteria
- Sample Rejection: Specimens without proper pedigree documentation or clinical history form will be rejected.
- Exclusion: This test is not for asymptomatic newborns with no family history; pre-test genetic counseling is mandatory.
- Emergency Red Flags: If the patient experiences acute respiratory distress, chest wall deformity progression, or cyanosis, seek immediate emergency care. Never delay urgent evaluation for test results.
Patient FAQ & Clinical Guidance
1. What does the NEK1 genetic test detect, and who should consider it?
This test identifies pathogenic variants in the NEK1 gene linked to short-rib thoracic dysplasia type 6, a severe skeletal dysplasia characterized by narrow chest and polydactyly. It is indicated for children with suggestive radiological findings or a positive family history.
2. How is the sample collected, and what is the process for home collection?
A certified phlebotomist will collect 2–3 ml of whole blood in an EDTA tube via our temperature-controlled cold-chain home service, available daily from 8 AM to 11 PM. For neonates, a pediatric heel-stick on an FTA card can also be arranged.
3. What is the turnaround time, and what post-test support is provided?
Results are delivered within 3–4 weeks and include a detailed genetic report with variant interpretation. Our clinical genetics team offers a complimentary post-test telephone consultation to explain findings and manage implications.
UAE Regulatory & Data Privacy Adherence
ISO 9001:2015 Certified Facility (Cert: INT/EGQ/2509DA/3139) | DHA License Number: 1143
This service 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 & Logistical Metadata
| Test Name | NEK1 Gene Sequencing (Short-Rib Thoracic Dysplasia Type 6 ± Polydactyly) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or FTA Card (Neonatal Heel-Stick) |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger Validation |
| ICD-10-CM Code | Q77.2 (Asphyxiating Thoracic Dystrophy), Q87.8 (Other specified congenital malformation syndromes) |
| LOINC Code | 93442-0 (NEK1 gene mutation analysis) |
| DHA Facility License & Address | DHA License: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE (DNA Labs UAE) |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians