Test Price
2,800 AED✅ Home Collection Available
RAB39B Gene X‑Linked Intellectual Disability Type 72 NGS Test in UAE
Executive Summary & Core Metrics
This advanced NGS‑based genetic test, performed under DHA license 1143, provides definitive molecular diagnosis of X‑linked intellectual disability type 72 (OMIM #309490) with 99.9% diagnostic sensitivity. The test covers the full coding region of the RAB39B gene, enabling detection of pathogenic variants including single nucleotide variants, small indels, and copy number variants.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO‑accredited NGS laboratory 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 result interpretation by a DHA‑licensed Consultant Medical Geneticist.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This comprehensive test analyzes the entire coding region and flanking splice sites of the RAB39B gene using next‑generation sequencing (NGS) on an Illumina platform. Confirmatory Sanger sequencing is performed on all reported variants. Compared to conventional Sanger sequencing, our NGS panel provides full gene coverage, CNV detection, and faster turnaround.
| Feature | Our NGS Panel | Sanger Sequencing |
|---|---|---|
| Precision | Complete gene coverage with CNV detection | Targeted exon analysis only |
| Method | NGS with confirmatory Sanger validation | Single‑gene Sanger sequencing |
| Report Turnaround | 3–4 weeks (comprehensive) | 4–6 weeks (single exon) |
Physician Insight & Safety Protocols
"A positive RAB39B mutation provides a definitive molecular explanation for X‑linked intellectual disability type 72, bringing an end to the diagnostic odyssey for many families. However, results must be interpreted within the full clinical context, including the wide neurodevelopmental phenotype spectrum. All patients and families should receive post‑test genetic counselling to understand recurrence risks and management options."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Reg. ID: 9294403
Safety Advisory
Critical Medication Warning
Do not discontinue or modify any prescribed neurological or psychiatric medication without explicit instruction from your treating consultant. The genetic test result must not be used as a sole basis for medication changes.
Pre‑Test Exclusion Criteria & Emergency Red Flags
Exclusions
- Inability to provide informed consent for genetic testing as per Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Recent blood transfusion within two weeks (potential for sample chimerism affecting NGS analysis).
Emergency Red Flags
- Acute‑onset seizures or status epilepticus: refer immediately to the nearest emergency department before sample collection.
- Severe self‑injurious behavior or acute psychosis: warrants emergency psychiatric evaluation prior to proceeding.
Patient FAQ & Clinical Guidance
1. What does the RAB39B genetic test specifically diagnose?
This test identifies pathogenic variants in the RAB39B gene, a confirmed cause of X‑linked intellectual disability type 72 (MRX72). The condition often associates with macrocephaly, early‑onset Parkinsonism, and a distinctive neurobehavioral profile in males. A definitive molecular diagnosis enables tailored surveillance and family planning.
2. How is the blood sample collected for this test?
A DHA‑licensed phlebotomist performs a standard venous blood draw at your home using a sterile closed‑vacuum system. The sample is transported under continuous temperature‑controlled cold chain to our ISO‑accredited laboratory. Home collection is available daily from 8 AM to 11 PM with a minimum 24‑hour booking notice.
3. What should I do if a family member receives a positive RAB39B mutation result?
A positive result triggers immediate familial cascade screening. The biological mother should be tested first to determine carrier status, followed by all at‑risk male siblings. Our Consultant Medical Geneticist will guide the family through the process, including recurrence risk assessment and prenatal options for future pregnancies.
UAE Regulatory & Data Privacy Adherence
- This genetic test is performed under the regulatory framework of the Dubai Health Authority (DHA) and adheres to Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient data processing and storage.
- Health information protection aligns with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Informed consent and medical liability comply with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- All genetic data is encrypted and stored on sovereign UAE servers; no data is transferred outside the jurisdiction without explicit consent and legal authorization.
Clinical & Logistical Metadata
| Test Name | RAB39B Gene Sequencing (X‑Linked Intellectual Disability Type 72) – NGS |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral blood (EDTA), extracted DNA, or FTA card |
| Methodology Used | Next‑Generation Sequencing (NGS) with confirmatory Sanger validation |
| ICD‑10‑CM Code | F78 |
| LOINC Code | 68976-8 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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