Test Price
2,800 AED✅ Home Collection Available
RPGRIP1L Gene Joubert Syndrome Type 7 Genetic Test in UAE | 2,800 AED | DHA Licensed Facility
Executive Summary & Core Metrics
Executive Clinical Summary: This UAE-based diagnostic panel leverages Next‑Generation Sequencing (NGS) to detect pathogenic variants in the RPGRIP1L gene causative of Joubert syndrome type 7—a rare ciliopathy with hallmark brain malformations and developmental delay. The test offers 99.9% diagnostic sensitivity under ISO 9001:2015‑accredited processing (Cert: INT/EGQ/2509DA/3139), enabling definitive molecular diagnosis for timely neurological intervention and family planning.
Test Overview & Methodology
The RPGRIP1L Gene NGS Test is a comprehensive molecular diagnostic tool that screens the entire coding region of the RPGRIP1L gene for single‑nucleotide variants, small indels, and copy number changes associated with Joubert syndrome type 7 (JBTS7). It serves as a definitive confirmation assay for infants and children presenting with the molar tooth sign on neuroimaging, hypotonia, and oculomotor apraxia. Below, we compare our UAE‑optimised NGS platform with the most common alternative diagnostic approach.
| Feature | Our NGS Test (UAE) | Standard Sanger Sequencing / Panel |
|---|---|---|
| Method | Next‑Generation Sequencing (NGS) – full gene analysis | Sanger sequencing of selected exons / limited gene panel |
| Diagnostic Sensitivity | 99.9% | 85–90% (may miss deep intronic or copy number variants) |
| Turnaround Time | 3 to 4 Weeks | 6–8 Weeks |
| Comprehensive CNV Detection | Yes – integrated bioinformatics pipeline | Often requires separate MLPA assay |
| Price (AED) | 2,800 | 2,200–3,500 (variable, incomplete coverage) |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics licensed by the Dubai Health Authority, I emphasise that this NGS test provides a robust molecular confirmation for Joubert syndrome type 7, guiding multidisciplinary care and family counselling. A negative result, however, does not exclude all genetic disorders; clinical correlation with neuroimaging and specialist evaluation remains mandatory. Always involve a certified genetic counsellor when interpreting results.”
— Lina Osama Zaki Quteineh, DHA Registration ID: 9294403
Medication Safety Advisory
⚠️ Medication Safety Notice
Do not discontinue any prescribed medication (anti‑epileptics, respiratory support, etc.) without consulting your attending physician. This genetic test is for diagnostic clarification only and does not replace acute medical management.
🚨 Emergency Red Flags: If the patient experiences new‑onset seizures, sudden loss of consciousness, or severe respiratory difficulty, do not wait for test results—seek immediate emergency medical attention.
Exclusion Criteria
This test is inappropriate for individuals who have received a whole‑blood transfusion or allogeneic bone marrow transplant within the last 6 weeks (donor DNA may interfere). For patients on chronic immunosuppression, please discuss with our laboratory.
Patient FAQ & Clinical Guidance
1. What exactly does the RPGRIP1L gene test detect, and who should consider it?
Our NGS test identifies pathogenic variants across the entire RPGRIP1L gene that cause Joubert syndrome type 7, a rare neurological ciliopathy. It is clinically indicated for infants and young children presenting with cerebellar vermis hypoplasia (molar tooth sign), hypotonia, abnormal eye movements, and developmental delay. A paediatric neurologist or clinical geneticist typically orders the test following abnormal cranial MRI findings.
2. How accurate is this test, and can it predict the severity of Joubert syndrome?
With a diagnostic sensitivity of 99.9% using ISO‑accredited NGS technology, this assay reliably detects single nucleotide variants, indels, and copy number changes. However, genotype‑phenotype correlation in Joubert syndrome is complex; the same gene mutation can lead to a wide spectrum of clinical severity. The report interprets pathogenicity based on ACMG guidelines and provides a risk assessment for family members, but it cannot precisely forecast individual motor or cognitive outcomes.
3. What type of sample is needed, and how long will it take to get my results?
A simple blood draw (3 mL in EDTA tube), extracted DNA, or a single drop of blood on a specially designed FTA card is sufficient for this analysis. Our trained mobile phlebotomist will arrive at your home or clinic in a cold‑chain‑equipped vehicle. Once the sample reaches our accredited laboratory, the final genetic report is released within 3 to 4 weeks. A telephonic interpretation session with a clinical genetics counsellor is included at no extra cost.
UAE Regulatory & Data Privacy Adherence
Legal Compliance Framework
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL)
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields
- Federal Decree‑Law No. 4 of 2016 on Medical Liability
- ISO 9001:2015 Certified Facility (Certificate: INT/EGQ/2509DA/3139)
Our laboratory operates under DHA Facility License 1143, ensuring adherence to the highest quality and safety standards for genetic diagnostics in the Emirates. Physical address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate Lab: DNA Labs UAE.
Clinical & Logistical Metadata
| Test Name | RPGRIP1L Gene Joubert Syndrome Type 7 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next‑Generation Sequencing (NGS) |
| ICD-10-CM Code | Q04.3 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | 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