Test Price
2,800 AED✅ Home Collection Available
ASAH1 Gene Sequencing for Farber Disease (Genetic Test) in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Summary: This advanced genetic test utilises whole-gene NGS to identify pathogenic variants in ASAH1, enabling definitive diagnosis of Farber lipogranulomatosis, an autosomal recessive lysosomal storage disorder. Performed in our DHA‑licensed facility (Licence 1143) at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE, results are delivered within 3‑4 weeks with pre‑ and post‑test genetic counselling included. Every step complies 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. Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ✓ Accuracy: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139)
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM)
- ✓ Clinical Guidance: Telephonic Post-Test Genetic Counselling for result interpretation
- ✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
This test sequences all coding exons and flanking intronic regions of the ASAH1 gene using Next-Generation Sequencing (NGS) with copy number variation (CNV) detection. A mandatory genetic counselling session is included to map the family pedigree and obtain informed consent.
| Feature | Our Test (NGS ASAH1 Full Gene) | Closest Alternative (Targeted Sanger Panel) |
|---|---|---|
| Methodology | NGS with CNV detection & full exon coverage | Sanger sequencing of known hotspots only |
| Diagnostic Yield | >99% for coding variants | ~85% (misses deep intronic/regulatory variants) |
| Turnaround Time | 3–4 weeks (with genetic counselling) | 4–6 weeks (without counselling) |
| UAE Regulatory Compliance | DHA licensed, PDPL compliant, minor consent per Federal Law No. 2 of 2019 | Variable; often lacks formal UAE consent framework |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Genetics, I emphasise that while a negative NGS result significantly reduces the likelihood of classic Farber disease, it does not entirely rule out atypical presentations or deep intronic variants not covered by the assay. Clinical correlation with biochemical markers and imaging remains essential. Please never stop prescribed enzyme replacement or supportive therapies without direct consultation.”
– Lina Osama Zaki Quteineh, DHA Registration ID: 9294403
Medication Advisory: Do Not Discontinue Prescribed Therapy
Do not alter or cease any prescribed medication, including enzyme replacement, without explicit guidance from your treating physician. Abrupt discontinuation may worsen clinical outcomes.
Exclusion Criteria & Safety Red Flags
- Inability to provide informed consent or guardian consent (minors).
- Known haematological instability precluding safe phlebotomy (e.g., severe anaemia, active bleeding disorder).
- Emergency Red Flags: If the patient develops acute respiratory distress, severe joint contractures with pain, or neurological deterioration, seek immediate emergency care – do not wait for test results.
Patient FAQ & Clinical Guidance
1. What does the ASAH1 NGS test detect, and how is it different from a standard metabolic screen?
This test identifies disease-causing variants in the entire ASAH1 gene, offering a definitive molecular diagnosis of Farber disease rather than only biochemical suspicion. It provides >99% sensitivity for coding variants and includes CNV analysis.
2. Is genetic counselling mandatory, and how does it help my family?
Yes, a DHA-mandated counselling session maps the inheritance pattern, identifies at‑risk relatives, and supports future reproductive options. It also ensures informed consent per UAE regulations.
3. How private is my genetic data under UAE law?
Your genomic information is protected under Federal Decree-Law No. 45 of 2021 (PDPL), processed only in DHA-licensed facilities, and never shared without explicit consent. All data handling complies with Federal Law No. 2 of 2019.
UAE Regulatory & Data Privacy Adherence
This genetic test is performed under DHA Facility License 1143, with strict adherence to 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 data is encrypted, access-controlled, and processed solely for diagnostic purposes. No health information is shared with third parties without prior written consent.
Should you have any concerns regarding data processing, you may contact our Data Protection Officer at dpo@dnalabsuae.com.
Clinical & Logistical Metadata
| Test Name | ASAH1 Gene Sequencing for Farber Disease |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (with pre/post-test genetic counselling) |
| Sample Type / Matrix | Whole blood (EDTA tube), extracted DNA, or FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) – full exon coverage with CNV detection |
| ICD-10-CM Code | E75.22 |
| LOINC Code | 81201-4 |
| DHA Facility License & Laboratory Address | License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians