Test Price
2,800 AED✅ Home Collection Available
ISCA2 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 4 (MMDS4) Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
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: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (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.
Test Overview & Methodology
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. 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 | 2,800 AED | 2,000 – 3,500 AED |
Physician Insight & Safety Protocols
Note from Lina Osama Zaki Quteineh (DHA License: 9294403) – Consultant Medical Genetics: “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 Advisory
Medication & Supplement Notice
Do not discontinue any prescribed medication or supplement without consulting your treating physician. All clinical management decisions should be made in coordination with a qualified healthcare provider.
Exclusion Criteria & Emergency Red Flags
Patient Exclusion & Emergency Protocol
- 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
1. 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.
2. 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.
3. How are results interpreted?
Results are interpreted by a clinical geneticist and presented in a detailed medical report that identifies pathogenic variants in the ISCA2 gene. The report includes variant classification (pathogenic, likely pathogenic, variant of uncertain significance) and provides medical follow‑up recommendations, including family genetic counselling. A telephonic post‑test consultation is available to discuss the findings in the context of your family history.
UAE Regulatory & Data Privacy Adherence
This test is conducted in full compliance with UAE federal laws governing healthcare data and patient privacy. All genetic data is handled under the provisions of 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 testing safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory is licensed by the Dubai Health Authority (DHA License No. 1143) and adheres to ISO 15189 standards for quality and competence in medical laboratories.
Clinical & Logistical Metadata
| Test Name | ISCA2 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 4 (MMDS4) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood / Extracted DNA / FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with full gene sequencing and deletion/duplication analysis (MLPA) |
| ICD-10-CM Code | G31.89 |
| LOINC Code | 101804-6 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians