Test Price
2,800 AED✅ Home Collection Available
MICU1 Gene Myopathy with Extrapyramidal Signs Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing. Premium Logistics: VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation. Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
This advanced NGS test thoroughly screens the entire coding region of the MICU1 gene to identify pathogenic variants responsible for an ultra-rare mitochondrial disorder causing proximal muscle weakness and diverse extrapyramidal signs such as dystonia or parkinsonism. Results empower precise diagnosis, family cascade screening, and personalized management within 3–4 weeks from sample receipt.
Test Overview & Methodology
This comprehensive sequencing assay analyzes the full MICU1 gene using Illumina NovaSeq X Plus technology with bioinformatics aligned to current ACMG guidelines. The test achieves >99.9% sensitivity for single nucleotide variants and small indels within coding exons and flanking splice regions. A mandatory pre-test genetic counselling session is required to construct a pedigree chart, discuss inheritance patterns, and document prior neurological investigations. No fasting or medication adjustments are necessary; advise your physician of any anticoagulant therapy before blood collection.
| Feature | Our Test (Precision Genomics) | Closest Alternative (Standard Panel) |
|---|---|---|
| Precision | Full gene NGS with complete MICU1 coverage, pathogenic variant detection >99.9% | Targeted sequencing of selected exons only, may miss rare intronic variants |
| Methodology | Illumina NovaSeq X Plus, bioinformatics aligned with current ACMG guidelines | Older capillary sequencing or limited gene panels, updated less frequently |
| Speed | 3–4 weeks from sample receipt | 6–8 weeks typical |
| Sample Collection | VIP Mobile Phlebotomy & temperature-controlled cold-chain home collection (daily 8 AM–11 PM) | Clinic-only blood draw, limited scheduling |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I recognize the emotional and clinical complexity of pursuing a genetic diagnosis for suspected MICU1-related myopathy. This test provides a powerful molecular confirmation, but results must always be interpreted alongside the full clinical picture, family pedigree, and parallel investigations such as electromyography or muscle MRI. I strongly advise patients not to alter any prescribed therapies without direct consultation with their neurologist or genetic specialist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Medication Advisory
Do not discontinue, adjust, or initiate any prescribed medication without explicit guidance from your treating neurologist or clinical geneticist. Abrupt changes can worsen neurological symptoms or trigger adverse events.
Safety Exclusion Criteria & Emergency Red Flags
- Do not proceed if you are not under the direct supervision of a neurologist or clinical geneticist for suspected MICU1-related disease.
- This test is not a screening tool for asymptomatic individuals without a relevant family history.
- If you are pregnant or have a bleeding disorder, inform your genetic counsellor before sample collection.
- Seek immediate emergency care if you experience sudden worsening of muscle weakness, breathing difficulty, or severe movement disturbances while awaiting your results.
Patient FAQ & Clinical Guidance
1. How does a MICU1 gene mutation cause my symptoms, and what will the test reveal?
MICU1 mutations disrupt mitochondrial calcium uptake, leading to energy failure in skeletal muscles and basal ganglia neurons. The test identifies pathogenic variants in the MICU1 gene responsible for progressive myopathy with extrapyramidal signs such as dystonia, rigidity, or tremor. A positive result confirms the genetic diagnosis, enabling targeted physiotherapy, mitochondrial support strategies, and cascade testing for at-risk family members.
2. Why is mandatory genetic counselling required before this test?
Pre-test counselling ensures you understand the inheritance pattern, potential implications for relatives, and the scope of the test. The session includes drawing a three-generation pedigree, reviewing prior neurological workup, and discussing possible outcomes—including variants of uncertain significance. This informed consent process is essential for ethical and accurate result interpretation.
3. Can a negative MICU1 test completely rule out my condition?
A negative result does not exclude other genetic or acquired myopathies that may mimic MICU1-related disease. Because this assay focuses exclusively on the MICU1 gene, a normal report does not rule out other neuromuscular or mitochondrial disorders. Your neurologist will correlate the result with electromyography, muscle MRI, and broader genetic panels if clinically indicated.
UAE Regulatory & Data Privacy Adherence
Your genetic data is handled in strict 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, consent protocols, and safety standards adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE maintains ISO 9001:2015 certification and operates under DHA Facility License Number 1143 at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | MICU1 Gene Myopathy with Extrapyramidal Signs Genetic Test (Full Gene NGS Sequencing) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA tube); alternative buccal swab accepted with prior approval |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq X Plus platform; bioinformatics analysis per ACMG guidelines |
| ICD-10-CM Code | G71.2 (Congenital myopathy), G25.9 (Extrapyramidal disorder, unspecified) |
| LOINC Code | 21636-6 (Genetic analysis of specific gene mutation) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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