Test Price
2,800 AEDโ Home Collection Available
DYNC1H1 Gene Charcot-Marie-Tooth Disease Axonal Type 20 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
This DYNC1H1 genetic test delivers 99.9% diagnostic sensitivity for confirming axonal Charcot-Marie-Tooth disease type 20 through ISO-accredited next-generation sequencing and advanced bioinformatics analysis.
- Diagnostic Accuracy: 99.9% analytical sensitivity and specificity for DYNC1H1 coding region variants.
- Specimen Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM to 11 PM).
- Clinical Support: Telephonic post-test genetic counseling and result interpretation included.
- Insurance Verification: Direct billing confirmation available via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The DYNC1H1 NGS test screens the entire coding region and splice sites of the DYNC1H1 gene to confirm axonal Charcot-Marie-Tooth disease type 20 with single-nucleotide resolution. This targeted approach provides higher resolution for this specific gene compared to whole exome sequencing, ensuring comprehensive variant detection including small insertions, deletions, and copy number variations.
| Feature | DYNC1H1 Targeted NGS Test | Whole Exome Sequencing (WES) |
|---|---|---|
| Precision for DYNC1H1 | >99.9% analytical sensitivity with full intronic flanking coverage | ~95% coverage depth for DYNC1H1; may miss deep intronic variants |
| Variant Types Detected | SNVs, small indels, and CNVs via MLPA backup | Primarily SNVs and small indels; CNV detection is limited |
| Turnaround Time | 3โ4 weeks | 6โ8 weeks |
| Clinical Indication | Axonal CMT type 20 (CMT2O) differential diagnosis | Broad genetic screening for multiple unrelated conditions |
Physician Insight & Safety Protocols
โIdentifying a pathogenic variant in DYNC1H1 provides a precise molecular diagnosis for axonal CMT type 20, which is invaluable for prognosis, management, and family planning. I always advise patients that a definitive genetic result transforms uncertainty into actionable clinical knowledge.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Advisory Precautions for Genetic Testing
Medication & Clinical Advisory
Do not discontinue any prescribed neuropathic medications without consulting your treating physician.
Exclusion Criteria: If you have received allogeneic stem cell transplant or a blood transfusion within the past 3 months, the test results may reflect donor hematopoietic DNA rather than your germline genome.
Emergency Red Flags: Sudden worsening of muscular weakness, respiratory difficulty, loss of ambulation, or acute neuropathic pain requires immediate emergency medical evaluation.
Patient FAQ & Clinical Guidance
1. What is DYNC1H1-related Charcot-Marie-Tooth disease type 20?
CMT type 20 (CMT2O) is an axonal form of Charcot-Marie-Tooth disease caused by pathogenic variants in the DYNC1H1 gene. It primarily affects the peripheral nerves leading to distal muscle weakness, atrophy, and sensory loss. This genetic test confirms the specific molecular diagnosis.
2. How is the sample collected for this genetic test?
A standard peripheral whole blood sample (5โ10 ml) is required. Our VIP mobile phlebotomy service, backed by ISO-certified cold-chain logistics, is available daily from 8 AM to 11 PM across all Emirates including Dubai, Abu Dhabi, and Sharjah.
3. What is the turnaround time for results?
Results are typically available within 3โ4 weeks from sample receipt. This timeframe includes DNA extraction, library preparation, NGS sequencing, bioinformatics analysis, and clinical variant interpretation by our genetics team.
4. How do I prepare for the blood draw?
No special preparation such as fasting is required. Please stay well-hydrated before the collection. Inform the phlebotomist if you have a history of bleeding disorders or are taking anticoagulant medications.
UAE Regulatory & Data Privacy Adherence
Compliance & Data Protection Framework
Your genetic data is handled with the highest standards of confidentiality and security. DNA Labs UAE operates in full compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing the processing of genetic and health data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields ensuring secure digital health records.
- Federal Decree-Law No. 4 of 2016 on Medical Liability governing clinical testing safety and patient consent.
All genetic reports are released only to the ordering physician and the patient through secure, encrypted channels.
Clinical & Logistical Metadata
| Test Name | DYNC1H1 Gene Charcot-Marie-Tooth Disease Axonal Type 20 Genetic Test (NGS + MLPA) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 weeks |
| Sample Type / Matrix | Peripheral Whole Blood (5โ10 ml in EDTA tube) |
| Methodology Used | Next-Generation Sequencing (NGS) with Multiplex Ligation-dependent Probe Amplification (MLPA) for CNV detection |
| ICD-10-CM Code | G60.0 |
| LOINC Code | 82317-2 |
| DHA Facility License & Laboratory Address | DHA License: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE Corporate Lab: DNA Labs UAE |
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ISO Accredited
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All reports reviewed by DHA-Certified physicians