Test Price
2,800 AED✅ Home Collection Available
ROR2 Gene Sequencing for Robinow Syndrome (Autosomal Recessive) – DHA Licensed Genetic Test | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Workflow.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance with a DHA-licensed genetic counselor.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) panel sequences the entire coding region of the ROR2 gene to identify pathogenic variants causing autosomal recessive Robinow syndrome — a disorder characterized by mesomelic limb shortening, distinctive facial features, and genital hypoplasia. The Illumina NovaSeq™ platform is used with a validated bioinformatic pipeline, ensuring whole gene coverage and detection of single nucleotide variants and small insertions/deletions.
| Feature | NGS – ROR2 (Our Test) | Sanger Sequencing (Alternative) |
|---|---|---|
| Precision | Whole gene coverage; detects SNVs, indels | Exon‑by‑exon analysis; limited resolution |
| Method | Illumina NovaSeq™ NGS with bioinformatic pipeline | Capillary electrophoresis; manual interpretation |
| Turnaround | 3–4 Weeks | 6–8 Weeks |
Physician Insight & Safety Protocols
“Every child’s future deserves the certainty that only precise genetic data can provide. This NGS test for ROR2 is a critical step toward understanding your child’s development and planning the best supportive care pathway. I encourage you to review the results in a comprehensive multidisciplinary setting.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403), ISO 9001:2015 Lab Director
Important Medical Advisory
Do not discontinue prescribed medication without consulting your doctor. Genetic test results require expert correlation.
Exclusion Criteria & Pre-Test Requirements
- Exclusion: Individuals without clinical indication for Robinow syndrome evaluation.
- Exclusion: Inability to collect a minimal blood sample or DNA specimen via buccal swab.
- Red Flag: If patient exhibits acute respiratory distress, cyanosis, or extreme lethargy, seek emergency care immediately — this test is not for urgent diagnosis.
- Sample validity: Only blood, extracted DNA, or dried blood spot on an FTA card is accepted.
- Pre‑test requirement: A genetic counselling session to document a three‑generation pedigree is mandatory before sample submission.
Patient FAQ & Clinical Guidance
1. What does the ROR2 gene test for Robinow syndrome detect?
This NGS test identifies disease‑causing variants across the full ROR2 gene, confirming autosomal recessive Robinow syndrome with 99.9% analytic sensitivity. Pathogenic mutations disrupt the ROR2 tyrosine kinase receptor, causing the skeletal and craniofacial abnormalities characteristic of the condition. A negative report significantly reduces the probability, but clinical correlation remains essential.
2. How is the NGS test performed, and what is the collection process in the UAE?
A certified phlebotomist arrives at your home between 8 AM and 11 PM, draws blood or collects a buccal swab under cold‑chain protocol, and delivers the sample to our ISO‑certified laboratory. The sample is processed using Illumina NovaSeq™, with results available in 3–4 weeks. Post-test genetic counseling is provided via telemedicine.
3. Is NGS testing for autosomal recessive Robinow syndrome reliable for family planning?
Yes, NGS‑based carrier screening of the ROR2 gene provides >99% detection rate for pathogenic variants, empowering informed reproductive decisions when combined with genetic counseling. By testing both prospective parents, we can accurately assess recurrence risk for future pregnancies. The test also clarifies prognosis for affected children, guiding neonatal management and surgical planning.
UAE Regulatory & Data Privacy Adherence
Compliance: This genetic testing service adheres to 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. All genetic data is processed within the UAE under DHA facility license 1143. Clinical safety and patient consent follow Federal Decree‑Law No. 4 of 2016 on Medical Liability.
ISO 9001:2015 Certified — Certificate INT/EGQ/2509DA/3139.
Clinical & Logistical Metadata
| Test Name | ROR2 Gene Sequencing for Robinow Syndrome (Autosomal Recessive) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Buccal Swab, or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq™ |
| ICD-10-CM Code | Q87.1, Q87.2, Z14.8 |
| LOINC Code | 82939-0 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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