Test Price
2,800 AED✅ Home Collection Available
ABHD5 Gene Chanarin-Dorfman Syndrome Genetic Test AED 2,800
Executive Summary & Core Metrics
Guaranteed Diagnostic Accuracy: 99.9% Analytical Sensitivity through ISO 9001:2015 accredited Next-Generation Sequencing (NGS).
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 for result interpretation by a DHA-licensed Consultant Medical Geneticist.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This comprehensive genetic test uses Next-Generation Sequencing (NGS) to analyse the entire coding region of the ABHD5 gene, detecting point mutations, small insertions and deletions, and splice-site variants responsible for Chanarin-Dorfman syndrome (neutral lipid storage disease with ichthyosis). The test provides definitive molecular confirmation for patients presenting with ichthyosis, hepatomegaly, myopathy, and Jordan anomaly in peripheral blood smears.
Pre-Test Requirements
- Documented clinical history of the patient being evaluated for Chanarin-Dorfman syndrome.
- Mandatory genetic counselling session to construct a pedigree chart documenting family members affected by the condition (provided by our team).
- Valid informed consent signed in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
| Feature | Our Test (NGS, ISO 9001:2015) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% analytical sensitivity for substitutions and indels | ~99.0% (misses large deletions and mosaicism) |
| Method | Integrated NGS with MLPA confirmation if needed | Capillary electrophoresis, one amplicon at a time |
| Speed | 3–4 Weeks | 6–8 Weeks (often longer when reflex to NGS) |
Physician Insight & Safety Protocols
As a Consultant Medical Geneticist, I have witnessed the diagnostic odyssey that families endure when evaluating rare lipid storage disorders. The ABHD5 NGS assay provides a definitive molecular answer that can end years of uncertainty. Clinicians must always correlate a positive result with the classic triad of non-bullous ichthyosis, hepatomegaly, and Jordan anomaly on peripheral smear. A negative result does not exclude the diagnosis if clinical suspicion remains high; in such cases, consider whole-exome sequencing to rule out other neutral lipid storage disorders. Post-test counselling by a board-certified geneticist is essential for accurate risk assessment and family planning.
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Safety Advisory
Medication and Clinical Precautions
- Never discontinue or adjust prescribed medications, including lipid-lowering agents or retinoids, without consulting your managing physician.
- This genetic test result should not be used as the sole basis for treatment decisions; always integrate with clinical evaluation and biochemical findings.
- If you are pregnant or breastfeeding, inform your referring doctor and genetic counsellor before proceeding with testing.
Exclusion Criteria & Emergency Red Flags
Who Should Not Proceed With Testing
- This test is not intended for asymptomatic minors without a documented clinical indication or confirmed family history; testing of minors requires valid legal consent under applicable UAE regulations.
- If the individual has already undergone comprehensive genomic testing that included ABHD5, repeat analysis is not medically necessary unless new clinical findings emerge that alter the differential diagnosis.
- Seek immediate emergency care if you experience sudden severe abdominal pain, jaundice, rapidly progressive muscle weakness, or confusion — these may indicate metabolic decompensation requiring urgent medical intervention.
Patient FAQ & Clinical Guidance
1. What is the ABHD5 Genetic Test for?
The ABHD5 Genetic Test identifies pathogenic mutations causing Chanarin-Dorfman syndrome, an inherited metabolic disorder characterised by neutral lipid storage. It analyses the entire gene to confirm the diagnosis in patients with clinical signs such as ichthyosis, liver enlargement, and muscle symptoms.
2. Who should consider this test?
Individuals with non-bullous ichthyosis, unexplained hepatomegaly, proximal muscle weakness, or a family history of Chanarin-Dorfman syndrome should consider testing. It is also recommended for asymptomatic siblings of a confirmed case to clarify carrier status and guide reproductive planning.
3. What does the AED 2,800 price include?
The AED 2,800 price includes home blood draw through our VIP Mobile Phlebotomy service, NGS laboratory testing, pre-test genetic counselling, and one telephonic post-test interpretation session with a qualified genetic counsellor or medical geneticist.
4. How long does it take to receive results?
The turnaround time is 3 to 4 weeks from the date the sample is received by our laboratory. This accounts for DNA extraction, library preparation, NGS sequencing, bioinformatic analysis, variant interpretation, and clinical report generation.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
- Data Protection: All patient data is processed and stored in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information Security: Electronic health records and genetic data are handled according to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical Safety & Consent: Patient safety protocols and informed consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Accreditation: Laboratory operations are ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139), ensuring consistent quality management across all diagnostic processes.
Clinical & Logistical Metadata
| Test Name | ABHD5 Gene Sequencing – Chanarin-Dorfman Syndrome |
| Price (AED) | AED 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) |
| Methodology Used | Next-Generation Sequencing (NGS) with MLPA reflex |
| ICD-10-CM Code | E75.5, Z14.8, Z13.228 |
| LOINC Code | 81290-9 |
| DHA Facility License & Address | License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs 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