Test Price
2,800 AED✅ Home Collection Available
RORC Gene Immunodeficiency Type 42 Sequencing Test in Dubai | 2800 AED
Executive Summary & Core Metrics
Clinical Overview
This definitive genetic test sequences the complete RORC gene using next-generation sequencing (NGS) at high depth to detect pathogenic and likely pathogenic variants associated with primary immunodeficiency type 42. The analysis covers all coding exons, splice sites, and flanking intronic regions, enabling identification of mutations linked to chronic mucocutaneous candidiasis, mycobacterial disease, and autoimmune manifestations. Clinical sensitivity exceeds 99.9% with variant classification per ACMG guidelines, and results are delivered with a telephonic genetic counselling session. Direct insurance billing verification is available via WhatsApp at +971 54 548 8731. Fully compliant 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.
Key Metrics
- Turnaround Time: 3–4 weeks
- Sample Types: Whole blood (EDTA or FTA card) or extracted DNA
- Methodology: NGS with full gene coverage & copy number variant analysis
- Home Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM)
Test Overview & Methodology
The RORC gene sequencing assay interrogates all coding exons and flanking intronic regions using Illumina-based NGS chemistry with a minimum read depth of 100x. Bioinformatic analysis identifies single nucleotide variants, small insertions/deletions, and copy number variants. All clinically reportable variants are confirmed by Sanger sequencing and classified according to ACMG/AMP standards. This test is indicated for patients with recurrent fungal infections, persistent dermatophyte infections, and suspected Mendelian immunodeficiency involving the IL-17 immune axis.
| Feature | DNA Labs UAE RORC NGS Test | Closest Alternative |
|---|---|---|
| Precision | 99.9% analytic sensitivity / >99% specificity | Sanger sequencing (single exon, lower variant detection) |
| Method | NGS with full gene coverage & copy number variant analysis | Targeted mutation panel only |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Sample Options | Single-drop blood on FTA card, whole blood (EDTA), or extracted DNA | Venous blood only |
Physician Insight & Safety Protocols
Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403): “A pathogenic variant in RORC requires integration with clinical phenotype and family history. Genetic confirmation enables targeted antifungal prophylaxis and surveillance for autoimmune complications. A negative result does not exclude immunodeficiency; a comprehensive immunological work-up remains essential for symptomatic individuals.”
Pre-Test Advisory
Do not discontinue prescribed antifungal or immunomodulatory therapy without consulting your referring physician. This test requires mandatory pre-test genetic counselling including construction of a three-generation pedigree. Informed consent must be documented for all patients, with additional guardian consent for minors.
Safety Exclusion Criteria
- Active severe infection or febrile illness requiring hospitalisation
- Recent (within 30 days) intravenous immunoglobulin therapy (may interfere with immune phenotypic correlation)
- Inability to provide informed consent or assent for minor patients
- Known bleeding disorder contraindicated for capillary blood collection
Emergency Red Flags After Sample Collection
- Profuse bleeding that does not stop with steady pressure for 10 minutes
- Signs of infection at the puncture site (increasing redness, warmth, pus)
- Sudden fainting, dizziness, or chest pain – call 998 immediately
Patient FAQ & Clinical Guidance
1. What does the RORC gene immunodeficiency type 42 genetic test detect?
This advanced NGS test sequences the complete RORC gene to identify pathogenic and likely pathogenic variants that cause primary immunodeficiency type 42, a condition linked to chronic mucocutaneous candidiasis, severe dermatophyte infections, and autoimmune endocrinopathies. The test covers all coding exons, splice sites, and flanking intronic regions. Variants are classified strictly according to ACMG guidelines. A positive result confirms a molecular diagnosis and guides long-term antifungal prophylaxis, immunological surveillance, and family cascade testing.
2. Why is this genetic test essential for patients with recurrent fungal infections?
RORC mutations impair IL-17-mediated immunity, making individuals highly susceptible to persistent fungal infections of the skin, nails, and mucous membranes. Early genetic diagnosis allows initiation of targeted antifungal prophylaxis, reduces unnecessary immunosuppressive treatments, and enables screening for associated autoimmune conditions. Family members can also undergo targeted variant testing for reproductive counselling and early intervention.
3. How does the home collection service work for genetic testing in the UAE?
A certified phlebotomist visits your home daily between 8 AM and 11 PM to collect a single drop of blood on an FTA card or a venous blood sample in an EDTA tube. The sample is transported via temperature-controlled cold-chain logistics to our ISO-certified laboratory. A valid Emirates ID and completion of a pre-test genetic counselling session (telehealth available) are required. For minors, the legal guardian must provide consent and identity documents. Results are accessible through a secure patient portal within 3–4 weeks, accompanied by a telephonic clinical interpretation session.
UAE Regulatory & Data Privacy Adherence
This clinical service operates under the regulatory framework of the Dubai Health Authority (DHA) and the UAE federal healthcare legislation. All patient data is processed in strict compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). Health information is further protected under Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Genetic counselling and informed consent documentation meet DHA standards for clinical genetic testing.
Clinical & Logistical Metadata
| Test Name | RORC Gene (Immunodeficiency Type 42) Sequencing & Variant Analysis |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole Blood (EDTA or FTA card) or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) with full gene coverage & copy number variant analysis |
| ICD-10-CM Code | D84.8 |
| LOINC Code | 95384-5 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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