Test Price
2,800 AED✅ Home Collection Available
ABHD5 Gene Chanarin-Dorfman Syndrome Genetic Test in UAE AED 2,800 2026 DHA Guidelines
تحليل جين ABHD5 لمتلازمة Chanarin-Dorfman بتقنية NGS في الإمارات | 2,800 درهم | معتمد من هيئة الصحة بدبي
Guaranteed Accuracy: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited Next-Generation Sequencing (NGS).
Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy (8 AM–11 PM daily).
Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation by DHA-licensed specialists.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
ملخص تنفيذي: اختبار جيني عالي الدقة لتشخيص متلازمة Chanarin-Dorfman الناجمة عن طفرات في جين ABHD5، بدقة تشخيصية 99.9% عبر تقنيات تسلسل الجيل التالي المعتمدة وفق معايير الآيزو، مع خدمة سحب دم منزلي آمنة وإرشاد وراثي قبل وبعد الاختبار، ودعم مباشر من فريق طبي مرخص من هيئة الصحة بدبي. السعر شامل الاستشارة الوراثية وتقرير مفصل.
Overview
This comprehensive genetic test uses Next‑Generation Sequencing (NGS) to analyse the entire coding region of the ABHD5 gene, detecting point mutations, small insertions/deletions, and splice‑site variants responsible for Chanarin‑Dorfman syndrome (neutral lipid storage disease with ichthyosis). (بالعربية: تحليل تسلسلي كامل لجين ABHD5 يكشف الطفرات المسببة لمتلازمة تشانارين-دورفمان).
| Feature | Our Test (NGS, ISO 9001:2015) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% analytical sensitivity for substitutions & indels | ~99.0% (misses large deletions/mosaicism) |
| Method | Integrated NGS + MLPA confirmation if needed | Capillary electrophoresis, one amplicon at a time |
| Speed | 3–4 Weeks | 6–8 Weeks (often longer when reflex to NGS) |
Important Pre‑Test Requirements
- Clinical history of the patient being tested for Chanarin‑Dorfman syndrome.
- Mandatory genetic counselling session to construct a pedigree chart documenting family members affected by the condition (provided by our team).
Physician Insight & Safety Protocol
Dr. PRABHAKAR REDDY (DHA License: 61713011, Consultant Clinical Geneticist) notes: “As a clinician, I empathetically understand the anxiety surrounding genetic testing; the results of this ABHD5 analysis must always be correlated with clinical features such as ichthyosis, hepatomegaly, and lipid vacuoles in leukocytes (Jordan’s anomaly). Please remember that a negative result does not entirely exclude the diagnosis, and a positive result should be reviewed in the context of family history by a medical geneticist.”
⚠ Do not discontinue any prescribed medication without consulting your personal doctor.
Exclusion Criteria & ER Red Flags
- This test is not intended for asymptomatic minors without a clinical indication or confirmed family history; testing of minors requires valid legal consent in compliance with UAE CDS Law 2026.
- If the individual has already undergone comprehensive genomic testing that included ABHD5, repeat analysis is not medically necessary unless new clinical findings emerge.
- Seek immediate emergency care if you experience sudden severe abdominal pain, jaundice, rapidly progressive muscle weakness, or confusion — these may indicate metabolic decompensation.
Patient FAQ & Clinical Guidance
What is the ABHD5 Genetic Test for?
The ABHD5 Genetic Test identifies pathogenic mutations causing Chanarin-Dorfman syndrome, an inherited metabolic disorder. It analyses the entire gene to confirm the diagnosis in patients with clinical signs like ichthyosis, liver enlargement, and muscle symptoms. (هذا الاختبار الجيني يكشف الطفرات المسببة لمتلازمة تشانارين-دورفمان الوراثية بدقة عالية).
Who should consider this test?
Individuals with ichthyosis, muscle weakness, hepatomegaly, or family history of Chanarin-Dorfman syndrome should consider testing. It is also recommended for asymptomatic siblings of a confirmed case to clarify carrier status. (يُنصح بإجراء الاختبار للأشخاص الذين يعانون من السماك أو ضعف عضلي أو تضخم الكبد أو وجود تاريخ عائلي للمتلازمة).
What does the AED 2,800 price include?
The AED 2,800 price includes home blood draw, NGS testing, genetic counselling, and post‑test guidance. The fee covers laboratory processing, a comprehensive clinical report, and one telephonic interpretation session. (السعر 2,800 درهم يشمل سحب الدم منزليًا، التحليل الجيني، الاستشارة الوراثية، وتوجيه ما بعد النتيجة).
Facility License: 9834453 | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139)
DHA/MOHAP Standard Nomenclature applied. ABHD5 Gene Chanarin-Dorfman Syndrome Genetic – 2026 Clinical Codes: ICD‑10‑CM E75.5, Z14.8, Z13.228; LOINC 81290-9
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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
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All reports reviewed by DHA-Certified physicians