Test Price
2,800 AED✅ Home Collection Available
OTC Gene Ornithine Transcarbamylase Deficiency Genetic Test in Dubai, UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Precision: 99.9% sensitivity for pathogenic variants in the OTC gene via high-depth Next-Generation Sequencing (NGS) in an ISO 9001:2015 accredited molecular diagnostics laboratory.
- Premium Home Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection using whole blood (EDTA) or dried blood spot (FTA Card). Available daily from 8 AM to 11 PM across all Emirates.
- Post-Test Clinical Guidance: Complimentary telephonic interpretation session with a Consultant Medical Geneticist, included in the 2,800 AED price.
- Insurance Support: Direct billing verification available via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This definitive molecular assay utilizes high-depth Next-Generation Sequencing (NGS) to analyze the entire coding region and exon-intron boundaries of the OTC gene. It enables accurate diagnosis, carrier detection, and family planning for Ornithine Transcarbamylase Deficiency, a severe X-linked urea cycle disorder. This test is the only UAE-based ISO-accredited NGS assay delivering a 3-4 week turnaround with integrated genetic counseling.
| Parameter | Our Test (DHA Licensed) | Closest Alternative (Biochemical Assay) |
|---|---|---|
| Methodology | High-depth Next-Generation Sequencing (NGS) with CNV detection | Plasma amino acid chromatography + urine orotic acid (non-molecular) |
| Sensitivity | >99.9% for pathogenic SNVs, indels, and exonic deletions | ~80% – may miss female carriers and late-onset variants |
| Turnaround Time | 3 – 4 weeks | 5 – 7 days (biochemical only) |
| Clinical Value | Confirms genotype, enables predictive testing, preimplantation genetics | Suspected diagnosis; mutation unknown, no family screening |
Physician Insight & Safety Protocols
"Definitive molecular confirmation of OTC deficiency through comprehensive NGS sequencing is the cornerstone of accurate genetic counseling and risk assessment. Understanding the precise genetic etiology allows for tailored management and informed reproductive decisions for affected families."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Safety & Clinical Advisory
Medication Safety Notice
Do not discontinue any prescribed medication (e.g., sodium phenylbutyrate, arginine) without explicit instruction from your physician. Genetic test results are for diagnostic clarification and must not alter acute emergency management during a hyperammonemic crisis.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients unable to provide informed consent or minors without legally authorized guardian consent, in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Absolute Red Flags (seek ER immediately): Sudden lethargy, intractable vomiting, confusion, seizures, or respiratory alkalosis – these may indicate acute hyperammonemia. This test is not for emergency diagnosis.
- Sample Rejection: Blood collected in heparin tubes; contact the lab for alternative anticoagulant guidance (EDTA tubes are standard).
Patient FAQ & Clinical Guidance
1. What specific mutations does the OTC gene NGS test detect?
This test detects single nucleotide variants (SNVs), small insertions/deletions (indels), and large copy number variations (CNVs) across the entire OTC gene. It provides a definitive molecular diagnosis for Ornithine Transcarbamylase Deficiency, identifying pathogenic, likely pathogenic, and variants of uncertain significance (VUS) according to ACMG guidelines.
2. How is the home collection process structured for this genetic test in the UAE?
Our VIP Mobile Phlebotomy service operates daily from 8 AM to 11 PM. A trained phlebotomist arrives at your location with a temperature-controlled cold chain kit. For this test, we require a standard whole blood sample in an EDTA tube or a dried blood spot (DBS) collected via finger prick onto an FTA card. The DBS method is particularly suitable for pediatric patients and ensures sample stability.
3. What is the clinical utility of the post-test genetic counseling session?
The complimentary telephonic session with our Consultant Medical Geneticist is designed to interpret your genetic report in the context of your personal and family medical history. The discussion covers implications for at-risk relatives, carrier status, recurrence risks, and options for prenatal or preimplantation genetic testing (PGT).
UAE Regulatory & Data Privacy Adherence
Data Privacy & Health Information Governance
DNA Labs UAE strictly adheres to the Federal Decree-Law No. 45 of 2021 on the Protection of Personal Data (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All genetic data is encrypted, access-controlled, and processed solely for validated diagnostic purposes. Explicit patient consent is obtained prior to sample processing, ensuring full compliance with UAE data sovereignty and healthcare regulations.
Clinical & Logistical Metadata
| Test Name | OTC Gene Ornithine Transcarbamylase Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV Detection |
| ICD-10-CM Code | E72.4, E72.2, E72.9 |
| LOINC Code | 92815-3 |
| DHA Facility License & Address | DHA Facility License Number: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE Corporate Lab: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians