Test Price
2,800 AED✅ Home Collection Available
TRPV4 Gene CMT2C Next-Generation Sequencing (NGS) – Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test interpretation by a DHA-licensed consultant medical geneticist.
- Insurance Support: Direct billing verification via WhatsApp +971 54 548 8731.
- Report Turnaround: 3–4 weeks from sample receipt.
Test Overview & Methodology
The TRPV4 gene CMT2C genetic test identifies pathogenic variants responsible for Charcot‑Marie‑Tooth disease type 2C, a hereditary motor and sensory neuropathy characterised by progressive distal weakness, sensory loss, and vocal cord paresis. Using next‑generation sequencing (NGS), this assay delivers comprehensive full‑gene coverage, detecting single‑nucleotide variants, indels, and copy‑number changes in a single analytical run.
| Parameter | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | Full‑gene coverage, detects all variant types including deep intronic and copy‑number changes | Targeted to known hot‑spots; may miss deep intronic or structural variants |
| Methodology | Next‑generation sequencing with bioinformatic validation and variant classification per ACMG guidelines | Capillary electrophoresis of PCR amplicons; limited to single‑region analysis |
| Turnaround Time | 3–4 weeks | 4–6 weeks (often requires sequential testing) |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
“Genetic testing for CMT2C requires careful clinical correlation. A positive result confirms the molecular diagnosis but must be interpreted alongside the neurological examination, electrophysiological findings, and detailed family pedigree. I strongly recommend pre‑ and post‑test genetic counselling so that the results meaningfully guide management and family screening.”
Advisory: Medication Continuity
Do not discontinue or alter any prescribed medication without consulting your treating physician. This genetic test does not replace ongoing clinical monitoring or pharmacological therapy.
Exclusion Criteria & Emergency Red Flags
- Inability to provide valid informed consent — a mandatory genetic counselling session must be completed in advance.
- Minors without a legal guardian present, in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Severe coagulopathy or active bleeding disorder that contraindicates venous blood draw.
- Emergency Red Flags: If you experience sudden worsening of muscle weakness, difficulty breathing, or loss of bladder or bowel control, proceed to the nearest emergency department immediately.
Patient FAQ & Clinical Guidance
1. What does the TRPV4 gene CMT2C NGS test detect, and why is it ordered?
This next‑generation sequencing test identifies pathogenic variants across the entire TRPV4 gene that cause Charcot‑Marie‑Tooth disease type 2C with over 99.9% clinical sensitivity. Neurologists order this assay to confirm a molecular diagnosis when CMT2C is suspected based on progressive distal weakness, sensory loss, and vocal cord paresis, enabling precise genetic counselling and family planning.
2. How should I prepare for the blood draw and genetic counselling session?
No fasting is required. You must attend a dedicated genetic counselling session beforehand to document a three‑generation pedigree and ensure fully informed consent. A certified phlebotomist will collect a peripheral whole blood sample during a scheduled home visit, available daily from 8 AM to 11 PM via our VIP Mobile Phlebotomy service.
3. What happens after the test, and when will I receive my results?
Your sample is processed at our ISO‑certified genomics laboratory, and a comprehensive report is released within 3–4 weeks. You will receive a telephonic interpretation session with a DHA‑licensed consultant medical geneticist. The report includes variant classification per ACMG standards, clinical significance, and recommendations for family screening and management under UAE data privacy safeguards.
4. Can this test be performed on other family members for carrier or presymptomatic testing?
Yes. Once a pathogenic variant is identified in an index case, targeted testing for that specific variant can be offered to at‑risk relatives. This requires separate genetic counselling and consent. Turnaround time for targeted familial testing is typically 2–3 weeks.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Health Information Governance: All handling of personal data and genetic information complies 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. Clinical safety and patient consent procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. The laboratory holds ISO 9001:2015 accreditation (Cert: INT/EGQ/2509DA/3139) and operates under DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | TRPV4 Gene CMT2C Next-Generation Sequencing (NGS) – Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral Venous Blood) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM |
| Methodology Used | Next‑Generation Sequencing (NGS) with Bioinformatic Validation & ACMG Variant Classification |
| ICD-10-CM Code | G60.0 |
| LOINC Code | 81306-1 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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