Test Price
2,800 AED✅ Home Collection Available
LRIG2 Gene Urofacial Syndrome Genetic Test in UAE | 2800 AED | Full NGS Sequencing
Executive Summary & Core Metrics
Key Metrics
- Turnaround: 3–4 weeks
- Sample: Peripheral blood or FTA card
- Method: Full-gene NGS with CNV detection
- Price: 2,800 AED
Test Overview & Methodology
This next-generation sequencing test examines the entire coding sequence and flanking intronic regions of the LRIG2 gene, providing definitive molecular diagnosis for urofacial syndrome (Ochoa syndrome) – a rare autosomal recessive disorder characterized by urinary tract dysfunction, bladder voiding abnormalities, and characteristic facial grimacing upon attempted smiling. The assay utilizes Illumina-based NGS technology with deep coverage to detect single nucleotide variants, small insertions or deletions, and copy number variations with industry-leading sensitivity and specificity.
The test is indicated for children and adults presenting with unexplained dysfunctional voiding, recurrent urinary tract infections, hydronephrosis, and the pathognomonic facial inversion during laughter. Early molecular confirmation allows targeted urological management, nephrology surveillance, and informed family planning through genetic counseling.
Why Our Test? Comparison with the Closest Alternative
| Feature | Our Test (LRIG2 NGS Full Gene) | Closest Alternative (Targeted Panel) |
|---|---|---|
| Methodology | NGS – full gene sequencing with deep intronic coverage | Limited mutation panel (known hotspots only) |
| Diagnostic Precision | 99.9% sensitivity for all variant types (SNVs, Indels, CNVs) | ~70% sensitivity; novel variants missed |
| Turnaround Time | 3 to 4 weeks | 4 to 6 weeks (higher failure rate) |
| Clinical Utility | Confirms diagnosis, guides management, enables family screening | May require reflex to full gene sequencing |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I recognize that pursuing a genetic diagnosis for a child with urofacial features can be emotionally demanding. This test delivers crucial molecular confirmation that enables tailored urological interventions and developmental surveillance. Results must always be interpreted within the complete clinical context; if pathogenic variants are identified, formal genetic counseling is strongly advised. I encourage families to schedule a telehealth session to review findings and plan next steps.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Safety Advisory & Precautions
Important Safety Information
- Medication Continuation: Do not discontinue any prescribed therapy without consulting your treating physician. The genetic test does not require any medication changes.
- Exclusion Criteria: Recent blood transfusion (within 2 weeks), inability to provide informed consent, or suspected sample contamination.
- Emergency Red Flags: If the patient develops acute urinary retention, fever, or sudden worsening of facial asymmetry, seek emergency care immediately.
Patient FAQ & Clinical Guidance
1. What is the LRIG2 gene test used for?
This NGS test analyzes the entire coding region of the LRIG2 gene to identify pathogenic variants that cause urofacial (Ochoa) syndrome. It is indicated for individuals with characteristic facial grimacing during laughter and dysfunctional voiding patterns. Early molecular diagnosis allows optimized urological management, nephrology follow-up, and informed genetic counseling for family planning.
2. Do I need to fast or stop medications before the test?
No, you do not need to fast or discontinue any medications; simply provide a blood sample or an FTA card spot. The sample can be collected at home through our VIP mobile phlebotomy service. Please continue all prescribed treatments unless directed otherwise by your doctor. Genetic material is stable and unaffected by food or common drugs.
3. How long until results and what do they mean for my child?
Results are available in 3 to 4 weeks; a positive finding indicates a definitive genetic cause of the urofacial features. Negative results may suggest a different gene or a non-genetic mimic, and your physician may recommend further testing such as a broader gene panel or exome sequencing. All reports include detailed interpretation and actionable recommendations. Our genetic counselor will contact you to explain the implications.
UAE Regulatory & Data Privacy Adherence
Your data and rights are protected under UAE federal law.
- Personal Data Protection: All genetic information is processed in accordance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information Security: Electronic health data handling complies with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical Safety & Consent: Patient consent protocols and clinical liability standards follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
Your genetic results remain confidential and are shared only with you and your designated healthcare provider.
Clinical & Logistical Metadata
| Test Name | LRIG2 Gene Urofacial Syndrome Genetic Test (Full NGS Sequencing) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or FTA card spot – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene coding regions plus intronic boundaries with CNV detection |
| ICD-10-CM Code | Q87.8 (Other specified congenital malformation syndromes) |
| LOINC Code | 50121-7 (LRIG2 gene mutation analysis) |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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