ITGB6 Gene Amelogenesis Imperfecta Type 1H Genetic Test – UAE | 2,800 AED | DHA Licensed

Executive Summary & Core Metrics

✓ 99.9% Diagnostic Sensitivity – NGS assay validated under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) for all coding exons and splice-site boundaries of the ITGB6 gene.
✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all UAE emirates.
✓ Telephonic Post-Test Clinical Guidance – Complimentary expert interpretation and actionable genetic counselling with every report.
✓ Insurance Direct Billing Verification – WhatsApp +971 54 548 8731.
✓ Full UAE Regulatory Compliance – Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, and Federal Decree-Law No. 4 of 2016 on Medical Liability.

Test Overview & Methodology

This targeted ITGB6 Genetic Test detects pathogenic variants in the ITGB6 gene responsible for Amelogenesis Imperfecta Type 1H, an inherited disorder affecting tooth enamel, skin integrity, and immune system signalling. It is the only UAE-based NGS assay specifically validated for all exonic regions and splice-site boundaries, providing definitive molecular diagnosis and family risk stratification.

Comparative Assay Performance Matrix

Feature	Our ITGB6 NGS Test	Closest Alternative
Precision	99.9% sensitivity, full gene sequencing (coding + flanking intronic regions)	Limited-coverage panel, may miss deep intronic variants
Methodology	NGS (Illumina®-based) with Sanger confirmation of reportable variants	Sanger-only single exon sequencing (slower, less comprehensive)
Turnaround Time	3–4 weeks (expedited options available)	Often 6–8 weeks
Data Security	UAE PDPL compliant local processing	Data often sent offshore

Physician Insight & Safety Protocols

"A positive ITGB6 variant can explain lifelong enamel defects and subtle skin fragility, but it must be correlated with the complete clinical picture and family history. I always counsel patients that this test provides molecular clarity, not a standalone verdict on disease severity. Comprehensive pre-test counselling is essential before sample collection." — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.

Important Safety Advisory

⚠️ Medication Caution

Do not discontinue or alter any prescribed medication without consulting your treating physician. This genetic test is for diagnostic clarity and does not replace or modify acute treatment plans.

Exclusion Criteria & Emergency Red Flags

Acute dermatological or systemic infection requiring immediate medical attention.
Recent blood transfusion (within 4 weeks) – may cause sample contamination.
Known severe coagulopathy preventing safe venipuncture (FTA card alternative available).
ER Red Flag: Sudden onset of blistering skin lesions, respiratory distress, or signs of anaphylaxis – seek emergency care, do not schedule a test appointment.

Patient FAQ & Clinical Guidance

1. What exactly does the ITGB6 gene test diagnose?

The test definitively identifies pathogenic ITGB6 mutations causing Amelogenesis Imperfecta Type 1H, enabling accurate diagnosis and informing prognosis of enamel hypoplasia and associated dermatological signs. It is the only molecular assay that differentiates this subtype from other forms of inherited enamel defects.

2. Does this test require fasting or special preparation?

No fasting is required. However, a complete medical history and a pre-test genetic counselling session to construct a family pedigree are mandatory before sample collection to ensure correct interpretation of results.

3. How long until I receive results, and will a genetic counsellor explain them?

Turnaround time is 3–4 weeks from sample receipt at the laboratory. A complimentary telephonic consultation with a certified genetic counsellor is included with every report to explain the findings and guide next steps.

4. Can this test predict the severity of my condition?

The test identifies disease-causing variants but cannot alone determine clinical severity. Severity depends on variant type, genetic modifiers, and environmental factors. Your genetic counsellor will correlate molecular findings with clinical presentation to provide a comprehensive prognosis.

UAE Regulatory & Data Privacy Adherence

Your Data, Your Rights – Full Compliance Framework

Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – All genetic and personal data is processed, stored, and transmitted within UAE jurisdiction with strict consent management and data minimization protocols.
Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – Electronic health records and genetic test data are managed under audited ICT security standards with encrypted transmission.
Federal Decree-Law No. 4 of 2016 on Medical Liability – Clinical safety, informed consent, and patient rights are upheld throughout the testing lifecycle, from sample collection to result disclosure.

Clinical & Logistical Metadata

Test Name	ITGB6 Gene Amelogenesis Imperfecta Type 1H Genetic Test
Price (AED)	2,800 AED
Turnaround Time	3–4 weeks from sample receipt
Sample Type / Matrix	Peripheral whole blood (3–5 mL in EDTA tube) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM)
Methodology Used	Next-Generation Sequencing (NGS) – Illumina®-based platform with Sanger confirmation of all reportable variants
ICD-10-CM Code	K00.4 (Amelogenesis imperfecta)
LOINC Code	94808-8 (ITGB6 gene mutation analysis)
DHA Facility License & Laboratory Address	DHA Facility License Number: 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE \| DNA Labs UAE