Test Price
2,800 AED✅ Home Collection Available
ISCU Gene‑Related Hereditary Myopathy with Lactic Acidosis Genetic Test | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
This advanced next‑generation sequencing (NGS) test provides full‑gene analysis of the ISCU locus to confirm hereditary myopathy with lactic acidosis. Our ISO‑accredited workflow delivers diagnostic sensitivity exceeding 99.9% and includes telephonic post‑test consultation with a DHA‑licensed clinical geneticist.
- 99.9% Diagnostic Sensitivity – ISO 9001:2015 accredited processing (Cert: INT/EGQ/2509DA/3139).
- VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection – available daily from 8 AM to 11 PM.
- Tele‑Genetic Counseling – complimentary pre‑ and post‑test guidance by a consultant medical geneticist.
- Direct Billing & Insurance Verification via WhatsApp +971 54 548 8731 (PDPL‑compliant).
Test Overview & Methodology
The ISCU gene encodes a protein essential for mitochondrial iron‑sulfur cluster biogenesis. Pathogenic variants cause exercise intolerance, lactic acidosis, and progressive myopathy. Our NGS assay covers all coding exons and intronic boundaries with high‑depth sequencing, enabling detection of single‑nucleotide variants, small insertions/deletions, and copy‑number changes. A definitive molecular diagnosis guides family screening and long‑term management.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity, full gene coverage | ~95% sensitivity, single‑variant analysis |
| Methodology | NGS (Illumina platform), CNV detection | Sanger sequencing – limited to known mutations |
| Turnaround Time | 3–4 weeks with rush option | 4–6 weeks, no expedited service |
Physician Insight & Safety Protocols
"As a consultant clinical geneticist, I stress that a positive ISCU variant must be interpreted alongside biochemical and clinical data. This test provides molecular confirmation but is not a standalone diagnostic tool. Never modify treatment without specialist guidance."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA ID: 9294403Advisory Note
This test is intended for diagnostic confirmation in individuals with suspected hereditary myopathy and lactic acidosis. It is not a screening test for asymptomatic persons. Results should be reviewed by a metabolic specialist or geneticist before making clinical decisions.
Exclusion Criteria & Emergency Red Flags
- Do not discontinue prescribed medications (e.g., riboflavin, coenzyme Q10, anticonvulsants) without prior physician approval.
- This test is not appropriate for acute metabolic decompensation. Seek immediate emergency care if the patient experiences severe lactic acidosis, respiratory distress, or altered consciousness.
- Paediatric testing (minors) requires mandatory genetic counselling and documented guardian consent as per Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Invalid results may occur if the sample is drawn during haemolysis or after recent blood transfusion. Contact our laboratory for alternative collection instructions.
Patient FAQ & Clinical Guidance
1. What does the ISCU gene test detect?
It identifies pathogenic variants in the ISCU gene responsible for hereditary myopathy with lactic acidosis, enabling definitive diagnosis and family risk assessment.
2. How long do results take and are they reliable?
Results are typically available within 3–4 weeks with >99.9% sensitivity and specificity when performed on our ISO‑certified NGS platform.
3. Can I take the test without a doctor’s referral?
A physician’s request is mandatory in the UAE. We provide complimentary tele‑genetic counselling to guide you through the process and facilitate DHA‑compliant documentation.
UAE Regulatory & Data Privacy Adherence
This test is conducted at DNA Labs UAE under DHA Facility License No. 1143 (Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE). Patient data is protected in compliance with 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. All clinical procedures and informed consent adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | ISCU Gene‑Related Hereditary Myopathy with Lactic Acidosis Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (expedited option available) |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube) |
| Methodology Used | Next‑Generation Sequencing (NGS) with CNV detection |
| ICD-10-CM Code | G71.3 |
| LOINC Code | 21669-6 |
| DHA Facility License & Laboratory Address Invariants | DHA License No. 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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