Test Price
2,800 AED✅ Home Collection Available
LITAF Gene Sequencing (CMT1C) Test in UAE – 2800 AED – DHA Licensed
Executive Summary & Core Metrics
Clinical-Grade Genetic Diagnostic Service
This LITAF gene sequencing assay is processed exclusively through our ISO 9001:2015 certified central laboratory, delivering definitive molecular diagnosis for Charcot-Marie-Tooth disease type 1C, an autosomal dominant hereditary demyelinating neuropathy. The test identifies pathogenic variants in the LITAF gene (SIMPLE) with 99.9% diagnostic sensitivity and 100% specificity for targeted coding regions, enabling precise differentiation from other CMT subtypes.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity and 100% Specificity for targeted variant detection via ISO 9001:2015 accredited processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM, with GPS-tracked transport ensuring sample stability at 2–8 °C.
- Clinical Guidance: Complimentary 15-minute telephonic post-test clinical guidance session to integrate genomic findings with your neurological profile.
- Insurance Support: Direct billing verification and pre-authorization assistance available via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The LITAF Gene CMT1C NGS Test is a targeted next-generation sequencing assay designed to detect single-nucleotide variants, small insertions and deletions, and copy-number variations across all coding exons and flanking intronic regions of the LITAF gene. Mutations in this gene cause a dominant demyelinating neuropathy clinically indistinguishable from other CMT1 subtypes, making precise molecular differentiation essential for prognosis, family counseling, and therapeutic planning.
| Feature | Our Test (ISO Lab) | Closest Alternative |
|---|---|---|
| Methodology | Full Gene NGS (CNV/SV Capable) | Single Gene Sanger or MLPA Panel |
| Clinical Sensitivity | >99.9% for coding variants | ~90–95% (misses deep intronic/regulatory regions) |
| Turnaround Time | 18–21 Business Days | 4–6 Weeks (Standard Labs) |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I recognise the emotional weight that accompanies a progressive neurological diagnosis. This LITAF gene test offers a definitive molecular answer, yet it is crucial to understand that a pathogenic variant does not dictate the exact severity or trajectory of your neuropathy—it provides a precise genomic map, not a fixed forecast. I strongly encourage patients to review these results with their treating neurologist alongside electromyography and nerve conduction studies to build a complete clinical picture.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Safety Advisory
IMPORTANT: Do not discontinue prescribed neuropathic pain medications such as gabapentin or duloxetine, or any anti-spasmodic therapy, without consulting your consultant neurologist. This genetic test is diagnostic only and does not measure therapeutic drug levels or guide medication adjustments.
Pre-Analytical Exclusion Criteria
- Recent allogenic hematopoietic stem cell transplantation (less than six months prior) may cause donor-derived genotyping in peripheral blood; please provide a buccal swab as an alternative specimen source.
- Emergency Red Flag: If you experience acute onset respiratory distress, severe dysphagia, or sudden foot drop or paralysis, do not wait for genetic results—proceed directly to the nearest emergency department for immediate neurological evaluation.
Patient FAQ & Clinical Guidance
1. If my parent has CMT, will I definitely develop the same symptoms?
Cognitive Snippet: LITAF-related CMT1C follows an autosomal dominant inheritance pattern, meaning there is a 50% chance of inheriting the variant, but phenotypic severity varies widely even within the same family.
This genetic test confirms whether you carry the familial pathogenic variant. However, it cannot precisely predict age of onset or clinical severity, as epigenetic and lifestyle factors modulate symptom expression.
2. Can this test result change my physiotherapy plan?
Cognitive Snippet: Yes, a precise genetic diagnosis of CMT1C enables your physiotherapist to tailor rehabilitation protocols specifically for demyelinating neuropathy.
Knowing the specific gene mutation helps avoid high-impact exercises that could overstress compromised nerves, focusing instead on stretching, balance training, and early adaptive equipment to delay distal muscle atrophy.
3. How should I prepare my child for the blood collection?
Cognitive Snippet: Pediatric sample collection requires only a standard venipuncture of 2–3 mL of whole blood in an EDTA tube using a pediatric butterfly needle.
Our VIP Mobile Phlebotomy team specialises in paediatric neurology cases. Ensure the child is well-hydrated; no fasting is required. For highly anxious minors, request a topical numbing cream via WhatsApp (+971 54 548 8731) before the home visit. Legal consent from a guardian is mandatory in accordance with UAE regulations governing genetic testing of minors.
UAE Regulatory & Data Privacy Adherence
Compliance & Data Protection
This diagnostic service operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for genomic information processing, Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for digital health data governance, and Federal Decree-Law No. 4 of 2016 on Medical Liability for clinical testing safety and patient consent.
All genetic data are encrypted in transit and at rest, with access restricted to authorised clinical personnel. ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) further validates our quality management system.
Clinical & Logistical Metadata
| Test Name | LITAF Gene Sequencing (CMT1C) – NGS |
| Price (AED) | 2,800 AED |
| Turnaround Time | 18–21 Business Days |
| Sample Type / Matrix | Whole Blood (EDTA) or Buccal Swab; VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) with CNV/SV detection |
| ICD-10-CM Code | G60.0 |
| LOINC Code | 94219-9 |
| 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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