Test Price
2,800 AED✅ Home Collection Available
FAH Gene Tyrosinemia Type 1 Genetic Test in UAE
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 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.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Executive Summary & Core Metrics
This next-generation sequencing (NGS) test provides comprehensive analysis of the FAH gene, detecting pathogenic variants responsible for Tyrosinemia Type 1 (OMIM #276700). With 99.9% diagnostic sensitivity and full coding region coverage, it supports early diagnosis and management of this autosomal recessive metabolic disorder. The test is performed under the supervision of a Consultant Medical Geneticist and adheres to ACMG/AMP 2025 variant classification standards.
Test Overview & Methodology
The FAH gene encodes fumarylacetoacetate hydrolase, the final enzyme in the tyrosine catabolic pathway. Pathogenic variants lead to accumulation of toxic metabolites causing liver failure, renal tubulopathy, and neurological crises. Our NGS-based assay sequences all exons and flanking intronic regions of the FAH gene, detecting single nucleotide variants, small insertions/deletions, and splice-site variants. This approach surpasses targeted genotyping by identifying both known and novel mutations critical for accurate diagnosis in diverse populations.
| Attribute | Our Test (NGS + DHA Compliance) | Closest Alternative (Targeted Genotyping) |
|---|---|---|
| Precision | Full gene sequencing, detects novel & known variants | Limited to predefined common mutations; missing rare variants |
| Method | NGS with ACMG/AMP 2025 classification | PCR-based allele-specific assay |
| Turnaround | 3–4 Weeks (comprehensive interpretation) | 2–3 Weeks (limited scope) |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasize that genetic test results must always be interpreted alongside biochemical markers and clinical presentation. A positive FAH variant diagnosis is a call to action – with early intervention and nitisinone therapy, children can live healthy lives. I encourage all families to discuss results with a metabolic specialist.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Safety & Consent Framework
Informed consent must be obtained prior to sample collection, in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability. Pre-test genetic counselling is mandatory to discuss implications for family members and reproductive planning.
Exclusion Criteria & Emergency Red Flags
- Inability to provide informed consent or obtain guardian consent for minors (UAE Child Protection Law).
- Severe bleeding disorder or anticoagulant therapy that precludes safe blood draw; alternative buccal swab available.
- Acute hepatic crisis, severe coagulopathy, or neurological deterioration – seek emergency care immediately; genetic testing should not delay urgent metabolic management.
- If the patient exhibits cabbage-like odor, vomiting, or irritability, do not wait for test results – activate emergency protocol.
Patient FAQ & Clinical Guidance
1. What does the FAH gene test detect and why is it important in the UAE?
The FAH gene NGS test identifies pathogenic variants causing Tyrosinemia Type 1, a rare metabolic disorder prevalent in consanguineous populations, enabling early dietary intervention and life-saving treatment with nitisinone.
2. How do I prepare for the test and what sample is needed?
A simple blood sample (3 ml EDTA) or a drop on an FTA card is sufficient, with no fasting required; pre-test genetic counselling is mandatory to understand family history.
3. When will I get my results and what does a positive result mean?
Results are available within 3-4 weeks, and a positive result confirms Tyrosinemia Type 1, requiring immediate referral to a metabolic specialist for treatment and dietary management.
4. Is home sample collection available for this test?
Yes. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection is available daily from 8 AM to 11 PM. A certified phlebotomist will visit your home for blood draw.
5. Will my insurance cover the test cost?
We offer direct billing with most UAE insurance providers. Please send your policy details via WhatsApp to +971 54 548 8731 for verification.
UAE Regulatory & Data Privacy Adherence
Our Compliance Framework
- Personal data protection: Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health data handling: Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical safety and patient consent: Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Laboratory accreditation: ISO 9001:2015 and DHA compliance.
Clinical & Logistical Metadata
| Test Name | FAH Gene Sequencing (Tyrosinemia Type 1) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (3 ml EDTA) or buccal swab |
| Methodology Used | Next-Generation Sequencing (NGS) with ACMG/AMP classification |
| ICD-10-CM Code | E70.21 |
| LOINC Code | 94851-1 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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