Test Price
2,800 AED✅ Home Collection Available
SCO1 Gene Mutation Analysis (Hepatic Failure & Early‑Onset Neurologic Disorder) – Genetic Test in UAE | AED 2800 | 2026 DHA Guidelines
تحليل جين SCO1 لفشل الكبد المبكر والاضطراب العصبي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
ملخص تنفيذي: اختبار جيني فائق الدقة بتقنية التسلسل من الجيل التالي لرصد طفرات جين SCO1 المسببة لفشل الكبد المبكر والاعتلال العصبي، مطابق لتعليمات هيئة الصحة بدبي لعام 2026 والقانون الاتحادي رقم 41 لسنة 2024 (المادة 87)، مع حماية كاملة للبيانات وفق قانون حماية البيانات الشخصية الإماراتي.
Overview
The SCO1 gene NGS test is a definitive molecular diagnostic tool that identifies pathogenic variants linked to early‑onset hepatic failure and progressive neurologic disorder. In the UAE, this test is processed under DHA‑mandated standards to confirm or exclude a mitochondrial hepatocerebral syndrome, enabling precise clinical management and family genetic counselling.
اختبار تسلسل جين SCO1 هو أداة تشخيصية جزيئية قاطعة تُحدد الطفرات الممرضة المرتبطة بفشل الكبد المبكر والاضطراب العصبي المترقي. يُجرى في الإمارات وفق معايير هيئة الصحة بدبي لتأكيد أو استبعاد المتلازمة الكبدية الدماغية الميتوكوندريالية، مما يُمكّن من التوجيه العلاجي الدقيق والاستشارة الوراثية العائلية.
| Feature | Our Test (DHA‑Certified) | Standard Commercial Panel |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) – full SCO1 gene with ≥100× coverage, ACMG 2025 interpretation | PCR‑based targeted genotyping (limited mutation set) |
| Turnaround Time | 3–4 Weeks (report delivered digitally) | 4–6 Weeks |
| Clinical Support | Pre‑ & post‑test genetic counselling, direct DHA‑licensed specialist interpretation | Generic report only; support varies |
Physician Insight & Safety Protocol
“As a DHA‑licensed Clinical Pathologist, I emphasize that a positive SCO1 mutation result confirms a rare mitochondrial hepatocerebral disorder, but it must always be interpreted in the context of full clinical history, liver biochemistry, and neuroimaging. A negative result does not exclude phenocopies or other genetic aetiologies; therefore, ongoing specialist follow‑up and family counselling remain essential.”
— Dr. Prabhakar Reddy, DHA License 61713011
⚠️ IMPORTANT: Do not discontinue any prescribed medication without consulting your doctor. This genetic test supplements clinical judgement, not replaces it.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Testing of asymptomatic minors requires written consent from a legal guardian and mandatory pre‑test genetic counselling as per CDS Law (2026). Carrier screening without clinical indication is not routinely performed.
- Exclusion: Patients unable to provide a venous blood sample or dried blood spot after a certified phlebotomy attempt (alternative arrangements may be discussed).
- ER Red Flags: Seek immediate emergency care if the patient develops acute jaundice, easy bruising/bleeding, altered consciousness, seizures, or signs of hepatic encephalopathy. These symptoms may indicate rapid progression of liver failure and require urgent medical intervention.
Frequently Asked Questions
What is the SCO1 gene and why is it tested? / ما هو جين SCO1 ولماذا يُجرى الاختبار؟
Snippet: SCO1 encodes a mitochondrial copper transport essential for cellular respiration; mutations cause early‑onset hepatic failure and progressive neurologic decline.
This test sequences the entire SCO1 gene to detect single nucleotide variants, insertions, deletions, and copy‑number changes that underlie a devastating autosomal recessive disorder. The condition typically presents in infancy with hepatomegaly, cholestasis, and hypoglycaemia, followed by developmental regression, hypotonia, and movement disorders. Early molecular confirmation allows families to make informed reproductive choices and supports targeted nutritional and supportive care.
ملخص: جين SCO1 يرمز لبروتين نقل النحاس الضروري للتنفس الخلوي، وتسبب طفراته فشلاً كبدياً مبكراً وتراجعاً عصبياً تدريجياً. يقوم الاختبار بتسلسل الجين بالكامل لتحديد التغيرات الجينية الممَرِضة.
How is the test performed and what is the turnaround time? / كيف يُجرى الاختبار وما هي مدة الحصول على النتيجة؟
Snippet: A blood sample or dried blood spot is collected at home by a certified phlebotomist; results are ready in 3–4 weeks via next‑generation sequencing.
After verifying your eligibility and obtaining informed consent, a healthcare professional visits your location between 8 AM and 11 PM to draw a small volume of blood (EDTA tube) or to create a dried blood spot on an FTA card. The sample is transported under cold‑chain conditions to our ISO‑accredited laboratory. The DNA is extracted and subjected to NGS with bioinformatics analysis against the latest human reference genome. A comprehensive clinical report is issued within 3–4 weeks, reviewed by a DHA‑licensed genetic counsellor, and discussed with you telephonically.
ملخص: يُسحب عينة دم أو بقعة دم جافة بواسطة اختصاصي معتمد في منزلك، وتُرسل للمختبر تحت سلسلة تبريد، وتظهر النتائج في غضون 3 إلى 4 أسابيع.
Is this test covered by insurance in the UAE? / هل يغطي التأمين تكلفة هذا الاختبار في الإمارات؟
Snippet: We verify your insurance coverage directly via WhatsApp; many UAE plans cover genetic testing for clinically indicated hepatic or neurologic disorders.
Before scheduling, our team will request your insurance details via a secure WhatsApp link (+971 54 548 8731). We then directly bill major UAE insurers and obtain pre‑approval for the SCO1 when supported by a specialist referral or symptoms of early‑onset liver disease and neurologic impairment. Co‑payments, if applicable, are clearly communicated upfront. Patients paying out‑of‑pocket receive a detailed invoice that can be submitted for reimbursement. For minors, genetic testing is covered only with guardian consent and a documented medical necessity in line with CDS 2026 regulations.
ملخص: نتحقق من تغطية التأمين عبر واتساب؛ العديد من خطط التأمين في الإمارات تغطي الاختبارات الجينية للحالات الكبدية والعصبية المؤكدة سريرياً.
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