Test Price
2,800 AED✅ Home Collection Available
ABCA12 Gene Sequencing (Harlequin Ichthyosis) – Diagnostic & Carrier Testing in Dubai
Executive Summary & Core Metrics
This test provides definitive molecular diagnosis of Harlequin ichthyosis through comprehensive sequencing of the ABCA12 gene. Designed for prenatal and postnatal evaluation, carrier detection, and reproductive risk assessment, the assay is performed under ISO-accredited conditions at DNA Labs UAE.
- Analytical Sensitivity: >99.9% for single-nucleotide variants and small indels across all coding exons and flanking intronic regions, confirmed by orthogonal Sanger sequencing.
- Logistics Framework: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – Available daily from 8 AM to 11 PM, preserving specimen integrity from your doorstep to the laboratory.
- Clinical Pathway: Mandatory pre-test genetic counselling session with a DHA-licensed counsellor, followed by a telephonic post-test results discussion.
- Billing & Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
Harlequin ichthyosis is a severe autosomal recessive disorder caused by biallelic pathogenic variants in the ABCA12 gene, which encodes a keratinocyte lipid transporter essential for epidermal barrier function. Our next-generation sequencing assay interrogates the entire coding region plus exon-intron boundaries, detecting missense, nonsense, frameshift, splice-site, and canonical indel variants with high analytical accuracy. The test supports definitive diagnosis in neonates, carrier testing in at-risk adults, and prenatal diagnosis in families with known mutations.
| Feature | Our ABCA12 NGS Test | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Methodology | NGS of full gene coding regions plus exon-intron boundaries with confirmatory Sanger | Sanger sequencing of selected exons only |
| Detection Rate | >99% for known and novel pathogenic variants | Limited to pre-defined hotspots; may miss large deletions or duplications |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Regulatory Compliance | Full UAE DHA/MOHAP certification, ISO 9001:2015 | May not meet local genetic testing standards |
Physician Insight & Safety Protocols
"Understanding the profound implications of a Harlequin ichthyosis diagnosis requires both molecular precision and compassionate guidance. As Consultant Medical Genetics at DNA Labs UAE, I ensure each ABCA12 gene sequencing report is generated with the highest analytical rigor and interpreted within the full clinical context of the patient and family. Pre-test genetic counselling is not merely a regulatory requirement—it is a clinical necessity that we facilitate for every referral."
– Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Note – Medication & Clinical Context
Patients currently receiving systemic retinoids or intensive emollient therapy should not alter or discontinue their regimen based solely on genetic test results. All management decisions must be coordinated with the treating dermatologist and clinical geneticist. The genetic report is one component of a comprehensive diagnostic evaluation and should never replace acute clinical assessment.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion – Transplant History: Bone marrow or stem cell transplant within the past 12 months – donor-derived DNA may compromise germline variant detection.
- Exclusion – Recent Transfusion: Whole blood transfusion less than 4 weeks prior to collection – please notify the laboratory before sample draw.
- Emergency Red Flag: Neonates or infants presenting with severe dehydration, skin barrier failure with suspected sepsis, respiratory distress, or electrolyte imbalance require immediate emergency medical intervention irrespective of genetic testing plans.
- Minor Consent: Testing for individuals under 18 years requires written informed consent from the legal guardian, in full compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What is the ABCA12 gene test and what conditions does it detect?
This test identifies pathogenic variants in the ABCA12 gene that cause Harlequin ichthyosis, a severe autosomal recessive skin disorder. It also determines carrier status for parents and close relatives, enabling accurate reproductive counselling and prenatal diagnosis options for at-risk pregnancies.
2. How is the sample collected and when will I receive results?
A peripheral whole blood sample is collected at your home by a DHA-licensed phlebotomist using a cold-chain transport system. Results are reported within 3 to 4 weeks from sample receipt at our ISO-certified laboratory. The specimen remains stable throughout the logistics chain, ensuring no degradation of genetic material.
3. Is genetic counselling mandatory before undergoing this test?
Yes, UAE regulations mandate a pre-test genetic counselling session and signed informed consent prior to ABCA12 gene sequencing. Our genetic counsellor will review the pedigree, discuss inheritance patterns, explain possible outcomes, and document consent. This session can be scheduled via WhatsApp at +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance
DNA Labs UAE operates under the full scope of UAE federal data protection and health information governance frameworks. All genetic data generated through ABCA12 gene sequencing is processed, stored, and transmitted in strict compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the lawful collection, processing, and transfer of personal genetic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – establishing security standards for electronic health records and genomic data systems.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – ensuring clinical accountability, patient consent, and safety in diagnostic genetic testing.
Our laboratory maintains ISO 9001:2015 certification and adheres to DHA/MOHAP licensing requirements for molecular genetic diagnostics. No genetic information is shared with third parties without explicit patient consent as required by law.
Clinical & Logistical Metadata
| Test Name | ABCA12 Gene Sequencing (Harlequin Ichthyosis) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) |
| Methodology Used | Next-Generation Sequencing (NGS) of full coding region plus exon-intron boundaries with confirmatory Sanger sequencing |
| ICD-10-CM Code | Q80.4 |
| LOINC Code | 81409-9 |
| DHA Facility License & Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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