Test Price
2,800 AEDโ Home Collection Available
COX20 Gene Ataxia and Muscle Hypotonia Genetic Test in Dubai Healthcare City
Executive Summary & Core Metrics
Executive Summary
This next-generation sequencing (NGS) assay analyzes the entire coding region of the COX20 gene to identify pathogenic variants linked to mitochondrial complex IV deficiency, presenting with cerebellar ataxia and generalized muscle hypotonia. The test achieves 99.9% diagnostic sensitivity through ISO 9001:2015 accredited processing and is supported by premium logistics including VIP mobile phlebotomy and temperature-controlled cold-chain home collection. Post-test telephonic clinical guidance is provided by DHA-licensed specialists.
- โ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- โ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- โ Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed specialists.
- โ Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This high-throughput NGS assay (Illumina platform) provides 1000ร mean coverage across all coding exons and splice junctions of the COX20 gene. It detects single nucleotide variants, small insertions/deletions, and copy number variants with analytical sensitivity exceeding 99.9%. The test is performed on peripheral whole blood collected via EDTA tube, extracted DNA, or dried blood spot (FTA card). Results are delivered within 3 to 4 weeks with expert interpretation.
| Feature | Our NGS Test | Sanger Sequencing (Alternative) |
|---|---|---|
| Methodology | High-throughput NGS (Illumina platform) with 1000ร mean coverage | Capillary electrophoresis, single amplicon |
| Analytical Sensitivity | >99.9% for single nucleotide variants, indels, and copy number variants | ~99.0% for SNVs, low sensitivity for mosaicism |
| Turnaround Time | 3โ4 Weeks (results with expert interpretation) | 4โ6 Weeks (often without CNV resolution) |
| Coverage | Complete coding exons & splice junctions | Selected exons only |
| Regulatory Compliance | DHA/MOHAP-approved, ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | Variable |
Physician Insight & Safety Protocols
"Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) emphasizes: 'Detecting a COX20 mutation requires meticulous correlation with the patientโs neurological examination and family pedigree. I strongly advise all individuals to complete pre- and post-test genetic counselling, and any therapeutic decisions must be made in close collaboration with a neurologist or clinical geneticist. This testing should not replace a comprehensive diagnostic workup.'"
Advisory Notes for Safe Testing
Medication and Clinical Precautions
Do not discontinue any prescribed medication without consulting your treating physician. The following exclusion criteria apply for home collection:
- Active febrile illness or acute infection
- Inability to provide informed consent (or legal guardian consent for minors)
- Known coagulopathy without physician clearance
- Unstable clinical condition requiring immediate hospital care
Emergency Red Flags โ Seek Immediate Medical Attention
- Sudden worsening of ataxia or loss of ambulation
- Respiratory distress or stridor
- Acute encephalopathy, refractory seizures, or signs of metabolic crisis
Pre-Test Genetic Counselling Mandate
Under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability, informed consent and genetic counselling are mandatory before any genetic testing. A session with a DHA-licensed genetic counsellor must be completed prior to sample collection. For minors, legal guardian consent is required. This test is not suitable for prenatal diagnosis or carrier screening without explicit pre-test counselling.
Patient FAQ & Clinical Guidance
1. What does the COX20 gene NGS test detect?
This test identifies DNA variants in the COX20 gene that cause mitochondrial complex IV deficiency, manifesting as ataxia and muscle hypotonia. It is indicated for individuals with clinical suspicion of mitochondrial disease, unexplained cerebellar ataxia, or congenital hypotonia with elevated lactate.
2. How long do results take?
Results are typically available within 3 to 4 weeks from sample receipt, ensuring thorough bioinformatic analysis and quality control. Urgent cases may be expedited upon request.
3. Is genetic counselling mandatory?
Yes, pre- and post-test genetic counselling are legally mandatory under UAE medical liability law. A DHA-licensed genetic counsellor will guide you through the implications of your results and any recommended follow-up.
4. Can I have the sample collected at home?
Yes, whole blood (EDTA) collection is eligible for our VIP Mobile Phlebotomy service, available daily from 8 AM to 11 PM. A certified nurse will visit your home under temperature-controlled cold-chain conditions. No hospital visit is required for this specimen type.
5. What do the results mean for my treatment?
The test result must be interpreted by a clinical geneticist. A pathogenic variant may guide therapies such as mitochondrial cocktail supplements, supportive care, or clinical trial eligibility. Always consult your specialist before making any changes to your current management.
UAE Regulatory & Data Privacy Adherence
This test is performed at DNA Labs UAE (DHA Facility License No. 1143) in compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ ensuring secure handling of your genetic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ governing electronic health records and telemedicine.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ governing clinical testing safety and patient consent.
- ISO 9001:2015 quality management system (Cert: INT/EGQ/2509DA/3139).
Your data is encrypted, access-controlled, and never shared without explicit consent. For further information, contact our Data Protection Officer at +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | COX20 Gene Full Mutation Analysis (Ataxia & Muscle Hypotonia) by NGS |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | High-Throughput Next-Generation Sequencing (Illumina) โ 1000ร Coverage |
| ICD-10-CM Code | G31.81 (Mitochondrial disease), G11.1 (Early-onset cerebellar ataxia), P94.2 (Congenital hypotonia) |
| LOINC Code | 101398-2 |
| DHA Facility License & Address | License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
Need Home Collection or Genetic Counselling?
Call or WhatsApp +971 54 548 8731
Available 8 AM โ 11 PM, 7 Days a Week
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