Test Price
2,800 AED✅ Home Collection Available
TGM1 Gene Sequencing for Autosomal Recessive Congenital Ichthyosis Type 1 (ARCI1) – Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
✔ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO‑Accredited NGS Processing
✔ Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (8 AM – 11 PM, Daily)
✔ Clinical Guidance: Complimentary Telephonic Post‑Test Result Interpretation with a Consultant Medical Geneticist
✔ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
The TGM1 gene sequencing test detects pathogenic mutations in the TGM1 gene, the primary cause of autosomal recessive congenital ichthyosis type 1 (lamellar ichthyosis). This assay analyses all coding exons and canonical splice sites using Next‑Generation Sequencing (NGS), delivering a definitive molecular diagnosis for affected individuals and accurate carrier status identification for at‑risk family members.
Clinical presentation of lamellar ichthyosis includes large, dark scaling plaques, ectropion, and hearing impairment. Genetic confirmation through TGM1 sequencing enables precise prognosis, informed genetic counselling, and tailored dermatological management. The test is recommended for patients with persistent generalised scaling, a history of collodion membrane at birth, or a family history of congenital ichthyosis.
| Feature | Our TGM1 NGS Test | Multi‑Gene Ichthyosis Panel (Alternative) |
|---|---|---|
| Analytical Precision | 99.9% sensitivity for all TGM1 coding exons, splice sites, and selected regulatory regions | Moderate – lower per‑gene coverage depth may miss deep intronic or promoter variants |
| Methodology | Targeted NGS (Illumina platform) with Sanger confirmation of all clinically significant variants | NGS panel of 10+ ichthyosis‑related genes; reduced coverage on TGM1 |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I routinely counsel families navigating the diagnostic odyssey of congenital ichthyosis. This single‑gene TGM1 sequencing test offers high diagnostic clarity when clinical features point toward lamellar ichthyosis. However, a negative result does not exclude other genetic subtypes; correlation with the full dermatological phenotype and family pedigree remains essential. I strongly advise post‑test consultation with a genetic counsellor to integrate molecular findings into a comprehensive care plan.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Notice – Medication and Treatment Continuity
⚠ Important Clinical Advisory
Patients must not discontinue or adjust any prescribed dermatological or systemic therapy based solely on genetic test results. Always consult your treating physician before making changes to your medication regimen. Genetic findings are intended to inform clinical management, not replace it.
Exclusion Criteria and Red Flags
Exclusion Criteria
- This test is not validated for prenatal diagnosis; prenatal applications require formal genetic counselling and must be performed in a certified fetal medicine unit.
- Samples from minors require written informed consent from a parent or legal guardian, in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Emergency Red Flags
- If the patient experiences rapid skin blistering, signs of systemic infection (fever, purulent discharge), or dehydration, seek immediate emergency medical attention. Genetic results are not a substitute for urgent clinical assessment.
Patient FAQ & Clinical Guidance
1. What is the TGM1 gene test used for?
This test identifies disease‑causing mutations in the TGM1 gene, which is responsible for lamellar ichthyosis (ARCI1). It provides a definitive molecular diagnosis, enables carrier detection in family members, and supports informed family‑planning decisions. The test is appropriate for individuals with persistent generalised scaling, a history of collodion baby presentation, or a known family history of congenital ichthyosis.
2. How is the sample collected and what is the turnaround time?
A standard peripheral whole blood sample (EDTA tube) or a buccal swab is collected by our mobile phlebotomy team at your home. Our temperature‑controlled cold‑chain logistics preserve sample integrity from collection through to ISO‑accredited laboratory processing. Results are reported within 3–4 weeks of sample receipt.
3. Is this test covered by insurance in the UAE?
Many UAE health insurance plans provide coverage for medically indicated genetic testing when ordered by a licensed physician. Our team offers direct billing verification via WhatsApp at +971 54 548 8731. We will confirm your coverage and any applicable co‑pay or deductible before scheduling the collection.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
All genetic data generated by this test is processed, stored, and transmitted 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, data minimisation, and secure handling protocols are embedded in every stage of the laboratory workflow.
Clinical safety and patient consent procedures adhere strictly to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring that all genetic testing is performed under appropriate medical supervision and with fully informed written consent.
Clinical & Logistical Metadata
| Test Name | TGM1 Gene Sequencing for Autosomal Recessive Congenital Ichthyosis Type 1 (ARCI1) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Buccal Swab – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (8 AM – 11 PM, Daily) |
| Methodology Used | Next‑Generation Sequencing (NGS, Illumina platform) with Sanger confirmation of clinically significant variants |
| ICD-10-CM Code | Q80.2 (Lamellar ichthyosis) |
| LOINC Code | 103231-4 (TGM1 gene full sequencing) |
| DHA Facility License & Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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