Test Price
2,800 AED✅ Home Collection Available
RBBP8 Gene (Jawad Syndrome) Genetic Test in UAE – 2800 AED – NGS Precision Diagnostic
Executive Summary & Core Metrics
Comprehensive Genetic Screening – 99.9% Diagnostic Sensitivity
The RBBP8 gene NGS test delivers definitive detection of pathogenic variants causative of Jawad syndrome, a rare neurodevelopmental disorder characterised by microcephaly, epilepsy, and facial dysmorphism. Using clinical-grade next-generation sequencing, this single-assay solution replaces multi-step single-gene analyses with full gene coverage for single nucleotide variants, small insertions/deletions, and copy number variants. The complete service includes temperature-controlled home collection (daily 8 AM – 11 PM), a 3–4 week turnaround window, and a post-result tele-consultation with a consultant medical geneticist. Direct billing eligibility can be verified via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The RBBP8 NGS assay interrogates the full coding region and splice-site boundaries of the RBBP8 gene using paired-end sequencing on an Illumina platform. Bioinformatic analysis applies population-frequency filters (gnomAD, ExAC), in silico pathogenicity predictors (SIFT, PolyPhen-2, CADD), and ACMG/AMP variant classification guidelines. The test achieves 99.9% sensitivity for single-nucleotide variants and small indels, with >95% sensitivity for copy-number variants. Below is a comparative summary against conventional Sanger-based single-gene panels.
| Feature | Our Test (RBBP8 NGS) | Alternative (Sanger Sequencing Panel) |
|---|---|---|
| Methodology | Next-Generation Sequencing – full gene coverage | Targeted single-gene Sanger sequencing |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Detection Sensitivity | 99.9% for SNVs, small indels, and copy number variants | ~95% for point mutations only |
| Sample Types | Whole blood, extracted DNA, or dried blood spot (FTA card) | Fresh whole blood only |
Physician Insight & Safety Protocols
"A positive RBBP8 mutation confirms the molecular diagnosis of Jawad syndrome, enabling targeted family counselling and early neurodevelopmental intervention. Clinicians must interpret this genetic finding alongside a thorough dysmorphology examination, neurological assessment, and developmental history. Genetic test results guide but do not determine prognosis – a multidisciplinary care approach remains essential for optimising patient outcomes."
– Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403)
Medication Advisory
⚠️ Do Not Alter Prescribed Medications Without Physician Approval
Patients undergoing genetic evaluation should continue all current medications as directed by their treating physician. Abrupt discontinuation of antiseizure or neurodevelopmental therapies may lead to clinical deterioration. Any medication changes must be reviewed and authorised by the managing clinician.
Exclusion Criteria & Clinical Red Flags
- Exclusion: Inability to secure informed consent from a legal guardian – mandatory for minors under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Exclusion: Incomplete clinical pedigree or absence of required pre-test genetic counselling session.
- Red Flag: Sudden onset of uncontrolled seizures, loss of consciousness, or acute respiratory distress – seek emergency medical care immediately.
- Red Flag: Rapid neurodevelopmental regression in a paediatric patient while awaiting results warrants urgent paediatric neurology evaluation.
Patient FAQ & Clinical Guidance
1. What does the RBBP8 gene test diagnose?
The RBBP8 NGS test detects pathogenic mutations that cause Jawad syndrome, a rare genetic disorder characterised by microcephaly, epilepsy, and distinctive facial features. A positive result provides a definitive molecular diagnosis, enabling targeted management and family counselling.
2. How is the sample collected and what is the turnaround time?
A DHA-licensed phlebotomist performs a painless home collection using whole blood, extracted DNA, or a simple finger-prick FTA card. The sample is transported under temperature-controlled cold-chain logistics. Results are delivered within 3–4 weeks from sample receipt at the laboratory.
3. Will my UAE health insurance cover this genetic test?
Many major UAE health insurers cover medically indicated genetic testing. Contact our team via WhatsApp at +971 54 548 8731 for a rapid direct-billing eligibility verification specific to your policy.
UAE Regulatory & Data Privacy Adherence
Legal & Data Protection Compliance Framework
This genetic testing service operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring all genetic and clinical data are processed with explicit consent, purpose limitation, and data minimisation. The laboratory infrastructure also adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, governing the secure handling of electronic health records and telemedicine consultations. All clinical procedures are conducted under the patient safety standards of Federal Decree-Law No. 4 of 2016 on Medical Liability. ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) guarantees process consistency and quality management across all laboratory operations.
Clinical & Logistical Metadata
| Test Name | RBBP8 Gene (Jawad Syndrome) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole blood, extracted DNA, or dried blood spot (FTA card) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene coverage including splice-site boundaries |
| ICD-10-CM Code | Q87.8 (primary), Q02, Z15.89 |
| LOINC Code | 94867-3 – RBBP8 gene mutation analysis |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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