Test Price
2,800 AED✅ Home Collection Available
C19orf12 Gene Genetic Test for NBIA4/MPAN in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid hospital-grade home collection via ISO-certified cold-chain home collection and VIP mobile phlebotomy.
- Clinical Guidance: Telephonic post-test clinical guidance in result interpretation by a DHA-licensed genetic counsellor.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The C19orf12 gene genetic test provides a full-exon sequencing analysis to detect pathogenic variants associated with Neurodegeneration with Brain Iron Accumulation Type 4 (NBIA4/MPAN). This test is essential for confirming a clinical diagnosis in patients with progressive dystonia, spasticity, and brain iron deposition, and for guiding family risk assessment.
| Feature | Our Test (C19orf12 NGS) | Closest Alternative (NBIA Gene Panel) |
|---|---|---|
| Methodology | Targeted NGS (Illumina NovaSeq) with 100% coding exon ±20 bp coverage, CNV analysis | Multi-gene NGS panel (may omit deep intronic regulatory regions) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Sensitivity | 99.9% for SNVs, indels & exon-level CNVs | ~95% for SNVs; limited CNV detection |
Physician Insight & Safety Protocols
“As a clinical geneticist with a focus on neurodegenerative disorders, I understand that a genetic diagnosis for a condition like NBIA4/MPAN can be deeply unsettling for families. This test is a powerful diagnostic tool, but it must be interpreted in the full clinical context—alongside brain MRI and neurological exam—never in isolation. I strongly encourage every patient to complete a genetic counselling session before and after testing to ensure that results are understood and acted upon compassionately.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. Abrupt cessation of anti‑dystonia or anti‑spasticity drugs can trigger severe motor exacerbation or withdrawal seizures. Always discuss any changes with your neurologist.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients who have received bone marrow or stem cell transplantation within the last 6 weeks (donor DNA chimerism may confound germline results).
- Exclusion: The test is not designed for prenatal diagnosis unless prior familial variant is known and confirmatory testing is arranged with an accredited prenatal laboratory.
- Red Flag: Acute onset of uncontrollable dystonic storms, oculogyric crisis, or sudden respiratory compromise — visit the nearest Emergency Department immediately.
- Red Flag: New‑onset seizures or status epilepticus in a previously well-controlled patient requires urgent neurological evaluation.
Patient FAQ & Clinical Guidance
1. What is the C19orf12 gene test used for?
This test identifies pathogenic variants in the C19orf12 gene causing neurodegeneration with brain iron accumulation type 4, known as MPAN. It is used to confirm a diagnosis in individuals with early‑onset dystonia, speech difficulties, spasticity, and MRI evidence of brain iron deposition. The result also helps assess carrier status in asymptomatic relatives and informs reproductive planning.
2. How is the sample collected and what are the preparation requirements?
A simple blood draw (3–5 mL in EDTA tube) or a dry FTA card with a finger‑prick drop is collected by a certified phlebotomist. No fasting is required, but all patients must provide a detailed clinical history and a completed pedigree chart through a pre‑genetic counselling session, which helps the laboratory interpret the results accurately. For children, a topical anaesthetic cream is offered to minimise discomfort. Home collection operates daily between 8 AM and 11 PM with cold‑chain transport to our ISO‑certified facility.
3. How long until I receive my results and how will they be explained?
Results are delivered within 3 to 4 weeks through a secure portal and include a telephonic clinical consultation. The final report classifies every detected variant according to ACMG/AMP guidelines and indicates whether it is pathogenic, likely pathogenic, or of uncertain significance. A DHA‑licensed genetic counsellor will then walk you through the implications and, if needed, schedule a follow‑up with your referring neurologist or medical geneticist.
UAE Regulatory & Data Privacy Adherence
This service fully complies 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. Clinical safety and patient consent are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability. All genetic testing and counselling procedures adhere to the highest standards of data security and ethical practice in the UAE.
Clinical & Logistical Metadata
| Test Name | C19orf12 Gene Genetic Test (NBIA4/MPAN) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or FTA Card |
| Methodology Used | Targeted NGS (Illumina NovaSeq) with full exon coverage and CNV analysis |
| ICD-10-CM Code | G23.0 |
| LOINC Code | 55251-0 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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