Test Price
2,800 AED✅ Home Collection Available
CTDP1 Gene Sequencing for Charcot-Marie-Tooth Disease Type 4
Executive Summary & Core Metrics
- 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited Next-Generation Sequencing (NGS) processing, guaranteeing precise variant detection across the entire CTDP1 coding region.
- VIP Mobile Phlebotomy with hospital-grade, ISO-certified cold-chain home collection across the UAE, available daily from 8 AM to 11 PM.
- Telephonic Post-Test Clinical Guidance provided by a DHA-licensed Consultant Medical Genetics specialist to aid in result interpretation and familial risk assessment.
- Insurance Direct Billing Verification instantly via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This test utilizes Next-Generation Sequencing (NGS) to analyze the entire coding region of the CTDP1 gene, definitively diagnosing Charcot-Marie-Tooth disease type 4 (CMT4). Pathogenic variants in the CTDP1 gene cause a severe autosomal recessive hereditary motor and sensory neuropathy characterized by distal weakness and sensory loss.
| Feature | Our Test (CTDP1 NGS) | Closest Alternative (Single-Gene Sanger Sequencing) |
|---|---|---|
| Diagnostic Precision | Full gene coverage identifies 99.9% of pathogenic variants. | Limited to known hotspot mutations, missing novel variants. |
| Methodology | High-throughput NGS (Illumina NovaSeq X Plus platform). | Capillary electrophoresis Sanger method. |
| Turnaround Time | 3-4 Weeks | 6-8 Weeks |
Physician Insight & Safety Protocols
Clinical Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403): "A definitive molecular diagnosis of Charcot-Marie-Tooth disease type 4 through CTDP1 sequencing is a critical milestone, but it must be interpreted alongside a thorough clinical evaluation including nerve conduction studies and family pedigree analysis. Genetic results empower families with clarity and guide surveillance, yet they never replace the compassionate care of a dedicated medical team. We stand ready to translate these findings into a personalized care pathway."
Advisory: Medication Continuity
Do not discontinue or alter any prescribed neurological or supportive medication without explicit consultation with your supervising physician. Abrupt cessation can unmask severe symptoms or worsen disease progression.
Patient Safety Exclusion & Emergency Red Flags
- Exclusion Criteria: This test cannot be performed on a sample without complete patient identification or a requisition form signed by a referring physician. We cannot accept blood samples from patients who have received an allogeneic bone marrow transplant within the last 6 weeks.
- Emergency Red Flags: If you experience acute onset of respiratory distress, severe muscle weakness leading to falls, or complete loss of sensation in limbs, do not wait for test results. Proceed immediately to your nearest Emergency Department or call 998 for an ambulance.
Patient FAQ & Clinical Guidance
1. What does the CTDP1 NGS test definitively diagnose in a neurological context?
A: This test identifies pathogenic variants in the CTDP1 gene to provide a definitive molecular diagnosis of Charcot-Marie-Tooth Disease Type 4, a severe autosomal recessive hereditary motor and sensory neuropathy with distal weakness and sensory loss.
2. How long does it take to receive results, and how accurate are they?
A: Results are typically available within 3 to 4 weeks. Our NGS platform achieves >99.9% analytical sensitivity and specificity for variant detection across the entire CTDP1 gene.
3. How is my biological sample and genetic data protected under UAE law?
A: We adhere strictly to 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. Your DNA sample and genetic report are pseudonymized, encrypted, and inaccessible to third parties including insurers without your explicit, revocable consent.
UAE Regulatory & Data Privacy Adherence
This service strictly operates under:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring complete data privacy with local server hosting.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating digital health data handling.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – governing patient consent, safety, and clinical accountability.
- Laboratory accreditation certified by ISO 9001:2015 (Certificate No: INT/EGQ/2509DA/3139).
Sample collection is performed by DHA-licensed phlebotomists under facility license number 1143.
Clinical & Logistical Metadata
| Test Name | CTDP1 Gene Sequencing for Charcot-Marie-Tooth Disease Type 4 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3-4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (3-5 mL in EDTA) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq X Plus platform – whole coding region coverage with >100x depth. |
| ICD-10-CM Code | G60.0, G60.8 |
| LOINC Code | 60095-4 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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