Test Price
2,800 AEDโ Home Collection Available
INPP5E Gene Test (MORM / Joubert Syndrome) in UAE โ 2,800 AED โ NGS Sequencing by DNA Labs UAE
Executive Summary & Core Metrics
- Diagnostic Precision: 99.9% analytic sensitivity and specificity via ISO-accredited NGS workflow.
- Logistics Framework: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily, 8 AM โ 11 PM).
- Clinical Guidance: Post-test tele-consultation for result interpretation by our Consultant Medical Geneticist.
- Insurance Verification: Direct insurance coverage check via WhatsApp at +971 54 548 8731.
- DHA Licensed: Facility License No. 1143, Dubai Healthcare City.
Test Overview & Methodology
This single-gene NGS test sequences the entire coding region of INPP5E to detect pathogenic variants causing MORM syndrome (mental retardation, truncal obesity, retinal dystrophy, micropenis) and Joubert syndrome. The methodology ensures precise diagnostic confirmation and enables informed family counselling.
| Parameter | DNA Labs UAE โ INPP5E NGS | Closest Alternative (Single-exon Sanger) |
|---|---|---|
| Precision | 99.9% analytic sensitivity and specificity | ~98% limited to targeted exons |
| Methodology | Next Generation Sequencing (NGS) with full gene coverage | Sanger sequencing of selected exons |
| Turnaround Time | 3โ4 Weeks | 6โ8 Weeks (recessive exons) |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) emphasizes: โGenetic testing for INPP5E must be contextualized within a full clinical workup, including ophthalmologic, endocrinologic, and neurodevelopmental assessments. A negative result does not exclude MORM or Joubert syndrome if clinical suspicion remains high. Variant interpretation requires integration with detailed family history. Always consult your primary physician before making therapeutic decisions based on genetic findings.โ
Advisory Notice
Do not discontinue, initiate, or alter any prescribed medication or treatment protocol solely based on genetic test results without a direct consultation with your treating physician. Genetic results are one component of a comprehensive diagnostic strategy.
Exclusion Criteria & Urgent Care Red Flags
- Patients presenting with acute illness, uncontrolled metabolic decompensation, or requiring emergency intervention should postpone elective genetic testing.
- Inability to provide informed consent or obtain legal guardian consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Sample rejection criteria: clotted, hemolysed, or insufficient volume will necessitate recollection.
- ER Red Flag: Sudden vision loss, severe developmental regression, or signs of adrenal crisis require immediate emergency care. Genetic testing does not replace urgent clinical management.
Patient FAQ & Clinical Guidance
1. What does the INPP5E gene test detect?
This high-sensitivity NGS test detects pathogenic DNA variants in the INPP5E gene associated with MORM syndrome (mental retardation, truncal obesity, retinal dystrophy, micropenis) and Joubert syndrome, providing a definitive molecular diagnosis.
2. How long does it take to receive results?
Results are typically available within 3 to 4 weeks from the date the laboratory receives your sample, ensuring thorough bioinformatic analysis and clinical interpretation by our Consultant Medical Geneticist.
3. Is home sample collection available in Dubai and Abu Dhabi?
Yes, DNA Labs UAE offers VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all Emirates, maintaining ISO-certified sample integrity.
4. How is the sample processed and analyzed?
The sample undergoes Next Generation Sequencing (NGS) of the entire INPP5E coding region at our DHA-licensed laboratory in Dubai Healthcare City, followed by advanced bioinformatic analysis and variant interpretation.
UAE Regulatory & Data Privacy Adherence
Regulatory & Compliance Framework: This genetic testing service strictly adheres to the UAE's highest data protection and healthcare standards. Patient data is handled in accordance 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. All clinical procedures and patient consent protocols comply with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Corporate & Facility Identification: DNA Labs UAE operates under DHA Facility License Number 1143. Our laboratory is located at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | INPP5E Gene Test (MORM / Joubert Syndrome) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (DNA extracted) |
| Methodology Used | Next Generation Sequencing (NGS) โ Full Gene Coverage |
| ICD-10-CM Code | Q04.3 (Joubert syndrome), Q87.8 (MORM syndrome) |
| LOINC Code | 90368-8 (INPP5E gene mutation analysis) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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