Test Price
2,800 AED✅ Home Collection Available
ISCA2 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 4 (MMDS4) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين ISCA2 لمتلازمة خلل الميتوكوندريا المتعدد النوع 4 (MMDS4) بتقنية التسلسل الجيني (NGS) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Accuracy Guarantee: 99.9% Diagnostic Sensitivity and Specificity via ISO 15189‑accredited NGS workflow, delivering clinically actionable results with full gene coverage and deletion/duplication analysis.
Premium Logistics: Paid Hospital‑Grade Home Collection via ISO Certified Cold‑Chain Home Collection and VIP Mobile Phlebotomy (8 AM – 11 PM, 7 days).
Clinical Guidance: Telephonic Post‑Test Clinical Guidance in result interpretation by a DHA‑licensed specialist – actionable next steps explained within 24 h of report.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
ملخص تنفيذي: اختبار جيني شامل عالي الدقة لتشخيص متلازمة خلل الميتوكوندريا المتعدد النوع 4 المرتبطة بجين ISCA2، معتمد من هيئة الصحة بدبي وموافق لأحدث المبادئ التوجيهية التنظيمية (القانون الاتحادي رقم 41 لسنة 2024) مع ضمان خصوصية البيانات طبقاً لقانون حماية البيانات الشخصية الإماراتي.
Test Overview
This advanced Next‑Generation Sequencing (NGS) test screens the entire ISCA2 gene for pathogenic variants causing Multiple Mitochondrial Dysfunctions Syndrome Type 4 – a severe autosomal recessive condition presenting with progressive neurodegeneration, lactic acidosis, and multi‑organ failure. (اختبار جيني يكشف الطفرات المسببة للمتلازمة بدقة متناهية). It is the cornerstone for definitive molecular diagnosis, enabling early intervention, carrier screening, and informed reproductive planning.
| Feature | Our Test (ISO 9001:2015) | Closest Alternative |
|---|---|---|
| Methodology | NGS full gene sequencing + deletion/duplication analysis (MLPA) | Sanger sequencing of limited exons |
| Sequence Depth | ≥150× average coverage, 100% exon capture | 1–2×; misses large rearrangements |
| Turnaround Time | 3 to 4 Weeks | 4–6 Weeks |
| Sample Type | Whole Blood / Extracted DNA / FTA Card | Whole Blood only |
| Diagnostic Yield | >99% for ISCA2 point mutations & CNVs | ~80% (misses large deletions/duplications) |
| Price | 2800 AED | 2000 – 3500 AED |
Physician Insight & Safety Protocol
Note from Dr. PRABHAKAR REDDY (DHA License: 61713011) – Consultant Neurologist: “This NGS test unlocks the molecular diagnosis of a devastating mitochondrial syndrome; however, a negative result does not exclude other mitochondrial disorders and positive findings must be correlated with the patient’s full clinical picture, imaging, and metabolic work‑up. I advise that results be reviewed within a multidisciplinary mitochondrial clinic for accurate prognostic counseling.”
Clinical Notice
Do not discontinue any prescribed medication or supplement without consulting your treating physician.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Inability to provide a viable blood or DNA specimen; active acute metabolic crisis (encephalopathy, severe acidosis) that requires immediate emergency stabilisation – elective testing should be deferred until the patient is medically stable.
- Emergency Red Flags – Go to ER Immediately: Seizures, profound lethargy/responsiveness, arterial pH <7.25, unexplained loss of consciousness, respiratory distress, or signs of multi‑organ failure following sample collection are medical emergencies and must be managed urgently.
Patient FAQ & Clinical Guidance
Who should consider the ISCA2 gene test?
Individuals with progressive neurological regression, hypotonia, and lactic acidosis, especially in infancy or early childhood, should consider this test because it definitively diagnoses Multiple Mitochondrial Dysfunctions Syndrome 4. Clinical suspicion is often raised by developmental delay, movement disorders, seizures, and brain MRI findings consistent with Leigh‑like syndrome. A prior genetic counselling session is strongly recommended to draw a detailed pedigree chart of affected family members.
What does the test require, and how is the sample collected at home?
The test requires a simple blood draw or a painless finger‑prick dried blood spot on an FTA card, all collected at your home by a DHA‑licensed phlebotomist. Our VIP mobile phlebotomy team arrives with ISO‑certified cold‑chain transport kits, ensuring sample integrity from vein to laboratory. No fasting or special preparation is needed; however, we recommend completing a genetic counselling session prior to testing to ensure appropriate consent and clinical context.
كيف يتم تفسير النتائج؟
تُفسَّر النتائج من قبل أخصائي الوراثة السريرية، وتُصاغ في تقرير طبي دقيق يوضح وجود أو عدم وجود طفرات جينية ممرضة في جين ISCA2. يتضمن التقرير تصنيف الطفرة (ممرضة، محتملة الأهمية، غير معروفة الأهمية) وتوصيات طبية للمتابعة السريرية والاستشارة الوراثية العائلية، مع إمكانية مناقشة النتائج عبر استشارة هاتفية مع طبيب مرخص من هيئة الصحة بدبي.
(English: Results are interpreted by a clinical geneticist and presented with variant classification and medical follow‑up recommendations. A telephonic post‑ consultation is available to discuss the findings in the context of your family history.)
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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.
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All reports reviewed by DHA-Certified physicians