Test Price
2,800 AED✅ Home Collection Available
ABCC9 Gene Cantú Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM – 11 PM).
- Clinical Guidance: Post-test interpretation by board-certified Consultant Medical Genetics.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The ABCC9 Gene Cantú Syndrome Genetic Test is a next‑generation sequencing assay that completely scans the ABCC9 gene for pathogenic variants causing the rare multisystem disorder Cantú syndrome. This gold‑standard diagnostic test is performed on a peripheral whole blood sample collected via sterile venipuncture. The comprehensive bioinformatics pipeline identifies single nucleotide variants, small insertions/deletions, and splice‑site alterations with exon‑level resolution.
| Feature | Our ABCC9 NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% sensitivity, exon‑level resolution | 95–98% for single‑gene, misses deep intronic variants |
| Methodology | Full‑gene NGS (Next Generation Sequencing) + bioinformatics pipeline | Targeted single‑amplicon Sanger |
| Turnaround Time | 3 to 4 Weeks (standard) | 6 to 8 Weeks |
Physician Insight & Safety Protocols
“A positive ABCC9 result marks the beginning of a multidisciplinary care pathway. Early cardiology and developmental follow‑up can substantially enhance outcomes. However, a negative result does not rule out overlapping genetic syndromes; comprehensive dysmorphology assessment and imaging correlation remain essential. Always consult your managing physician before altering any prescribed therapy.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Safety Advisory
Never discontinue or adjust cardiac, antihypertensive, or any prescribed medications without explicit guidance from your treating doctor. Abrupt changes may lead to serious adverse events.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Active bleeding diathesis, severe anemia (Hb < 7 g/dL), or inability to provide informed consent for genetic testing.
- ER Red Flags: Sudden chest pain, severe palpitations, syncope, or acute respiratory distress — seek immediate emergency care (call 998 or 999 in UAE).
- Pre‑analytical Requirement: A formal genetic counselling session with a pedigree chart is mandatory before sample collection.
Patient FAQ & Clinical Guidance
1. What does the ABCC9 NGS test detect and why is it needed?
This test identifies pathogenic variants in the entire ABCC9 gene that cause Cantú syndrome, a rare multisystem disorder featuring hypertrichosis, coarse facies, and cardiomegaly. Confirming the diagnosis enables tailored cardiac surveillance and developmental support.
2. How does NGS compare to older genetic tests for Cantú syndrome?
NGS reads every coding exon and splice site simultaneously, delivering >99.9% analytical sensitivity. Older Sanger methods miss deep‑intronic or mosaic variants that can cause the disorder.
3. What preparation is needed before giving a blood sample?
A pre‑test genetic counselling session and pedigree drawing are required. No fasting or medication changes are needed unless your physician instructs otherwise.
UAE Regulatory & Data Privacy Adherence
This genetic test is performed in full compliance 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. Patient consent and clinical safety follow Federal Decree‑Law No. 4 of 2016 on Medical Liability. All personal health information is processed under DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | ABCC9 Gene Cantú Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA tube) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM – 11 PM) |
| Methodology Used | Next Generation Sequencing (NGS) with bioinformatics pipeline |
| ICD-10-CM Code | Q87.8, Q87.0 |
| LOINC Code | 48004-6 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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