ABCA12 Gene Lamellar Ichthyosis Type 2 Genetic Test in Dubai, UAE

Executive Summary & Core Metrics

✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.

✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).

✓ Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed specialists.

✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

✓ Turnaround: Results delivered within 3–4 weeks including mandatory pre- and post-test genetic counselling.

Test Overview & Methodology

This comprehensive Next‑Generation Sequencing (NGS) test analyses the entire ABCA12 gene to detect pathogenic variants responsible for lamellar ichthyosis type 2, a severe autosomal recessive congenital ichthyosis presenting at birth with collodion membrane and subsequent large, plate‑like scales. The test is performed on an Illumina® platform with full bioinformatics analysis and clinical annotation, achieving 99.9% sensitivity for SNVs, indels, and CNVs across coding and adjacent splicing regions.

Feature	Our ABCA12 NGS Test	Closest Alternative (Sanger Sequencing)
Precision	Full gene & adjacent splicing regions; detects 99.9% of SNVs, indels, CNVs	Targets only pre‑identified hotspot regions; misses novel/large rearrangements
Methodology	NGS (Illumina® platform) with full bioinformatics & clinical annotation	Sanger sequencing on selected exons
Turnaround Time	3–4 weeks (with statutory genetic counselling pre‑report)	2–4 weeks (limited to few amplicons)
Clinical Utility	Definite molecular diagnosis & carrier detection, direct impact on management & prognosis	May require reflex to full gene sequencing if no mutation found

Physician Insight & Safety Protocols

Lina Osama Zaki Quteineh — Consultant Medical Genetics (DHA Registration ID: 9294403): “Confirming a pathogenic variant in the ABCA12 gene provides a definitive molecular diagnosis for lamellar ichthyosis type 2, which is essential for distinguishing it from other congenital ichthyoses, guiding targeted therapy, and enabling accurate recurrence risk counselling for families. However, results must always be correlated with the clinical phenotype and a detailed three-generation pedigree.”

Medication Advisory

🛑 Do not discontinue any prescribed topical or systemic treatment (e.g., retinoids, emollients, antibiotics) without consulting your treating dermatologist. Genetic results can refine therapy but never replace ongoing medical management. Always discuss any changes with your physician.

Patient Safety Exclusion Criteria & Emergency Red Flags

⚠️ Exclusion Criteria and Red Flags

Exclusion criteria for blood draw: History of whole blood transfusion or allogeneic bone marrow transplant within the last 30 days; severe thrombocytopenia (platelets <50,000/µL) may require alternative sample coordination.
Neonatal emergency: If a newborn with suspected lamellar ichthyosis shows respiratory distress, temperature instability, or inability to feed, immediate admission to a NICU is required; do not delay care awaiting genetic results.
Red flags for parents: Signs of skin infection (pus, foul odor, increasing redness) or acute dehydration warrant urgent medical review regardless of test status.

Patient FAQ & Clinical Guidance

1. What exactly does the ABCA12 gene test diagnose, and why is it important?

Direct Answer: It definitively identifies DNA mutations in the ABCA12 gene causing lamellar ichthyosis type 2, a rare genetic disorder that produces severe scaling of the skin from birth. This molecular diagnosis guides dermatological treatment, genetic counselling, and family planning decisions with extreme accuracy.

2. How is the test performed and what sample is needed?

Direct Answer: A trained phlebotomist collects a simple 3–5 ml blood sample in an EDTA tube via a minimally painful venipuncture, often during our mobile home visit. No fasting or special preparation is required, but a pre‑test genetic counselling session to draw a pedigree chart of affected family members is mandatory.

3. How soon will I receive results and what does the 2800 AED cover?

Direct Answer: The complete analytical process takes 3 to 4 weeks, because each variant is verified and interpreted by two independent clinical scientists before the final medical report is signed. The 2,800 AED fee includes the whole‑gene sequencing, bioinformatics, a comprehensive interpretive report, and one post‑telephonic clinical guidance session with our DHA‑licensed genetic counsellor.

UAE Regulatory & Data Privacy Adherence

This laboratory operates 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. All genetic data is securely stored on UAE‑sovereign cloud infrastructure with ISO 9001:2015 certified processes (Cert: INT/EGQ/2509DA/3139). Clinical testing safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Your privacy and data security are our top priority.

Clinical & Logistical Metadata

Test Name	ABCA12 Gene Lamellar Ichthyosis Type 2 Genetic Test
Price (AED)	2,800
Turnaround Time	3–4 weeks
Sample Type / Matrix	Peripheral whole blood (EDTA tube)
Methodology Used	Next‑Generation Sequencing (NGS) on Illumina® platform
ICD-10-CM Code	Q80.2, Q80.0
LOINC Code	10334-7
DHA Facility License & Laboratory Address	License No. 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE \| DNA Labs UAE