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Test Price

2,800 AED

✅ Home Collection Available

KARS1 Gene CMTRIB Genetic Test in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

  • Diagnostic Accuracy: 99.9% analytical sensitivity via ISO-accredited Next-Generation Sequencing (NGS) covering full coding regions and exon-intron boundaries.
  • Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
  • Clinical Support: Post-test telephonic genetic counseling included with every report to interpret findings.
  • Insurance Coverage: Direct insurance verification available via WhatsApp at +971 54 548 8731.

Test Overview & Methodology

The KARS1 Gene CMTRIB Genetic Test analyzes the KARS1 gene for pathogenic mutations causing Charcot-Marie-Tooth disease type RIB (CMTRIB), a hereditary peripheral neuropathy characterized by progressive muscle weakness and sensory loss. This test employs next-generation sequencing to detect single nucleotide variants, insertions, deletions, and splice-site mutations across all coding exons and flanking intronic regions.

Feature Our NGS Test (KARS1 Gene CMTRIB Panel) Alternative (Conventional Sequencing)
Analytical Sensitivity 99.9% (NGS with full coding region & exon‑intron boundaries) ~99% (Sanger sequencing, limited exons)
Methodology Next‑Generation Sequencing (validated against Sanger confirmation) Capillary electrophoresis‑based Sanger
Turnaround Time 3–4 Weeks 6–8 Weeks
Price 2800 AED Varies, often 2500–3500 AED

Physician Insight & Safety Protocols

“Genetic testing for inherited neuropathies such as CMTRIB requires careful interpretation within the full clinical context and family pedigree. A negative result does not exclude all genetic causes of peripheral neuropathy. Our multidisciplinary team provides comprehensive post-test genetic counseling to help patients and families understand the implications of their results and make informed decisions.”

– Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403

Advisory Notice

⚠️ Do not discontinue or alter any prescribed medication without consulting your treating physician. This genetic test is not a substitute for emergency medical care.

Exclusion Criteria & Safety Precautions

  • Not indicated for: prenatal diagnosis without formal genetic counseling; somatic cancer genetic testing; asymptomatic minors without parental consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
  • Pre-test mandatory requirements: Complete clinical history documentation and a three-generation pedigree chart session must be completed before sample collection.
  • Emergency red flags: Seek immediate medical attention if you experience sudden worsening of muscle weakness, respiratory difficulty, or acute loss of sensation.

Patient FAQ & Clinical Guidance

1. What does the KARS1 Gene CMTRIB Genetic Test detect?

The KARS1 gene NGS test detects inherited mutations causing Charcot-Marie-Tooth disease type RIB. It analyzes the entire coding sequence and adjacent intronic regions using next-generation sequencing. This test can confirm a clinical diagnosis, identify carriers within a family, and guide reproductive decision-making when combined with genetic counseling.

2. How long do results take and what does the report include?

Results are delivered in 3 to 4 weeks as a comprehensive genetic report. The report includes a summary of identified variants, their clinical classification according to ACMG guidelines, and an interpretation correlated with the patient's clinical presentation. Post-test telephonic genetic counseling is included to discuss findings and next steps.

3. Is home collection available and how is the sample processed?

Yes, VIP mobile phlebotomy and temperature-controlled cold-chain home collection is available daily from 8 AM to 11 PM. A certified phlebotomist collects a peripheral blood sample, which is transported in ISO-certified cold-chain storage to our accredited laboratory. DNA extraction is performed, followed by targeted NGS analysis. All samples are processed under strict quality control protocols.

4. What are the limitations of this genetic test?

This test detects mutations in the KARS1 gene only. It does not assess other genes associated with Charcot-Marie-Tooth disease or other peripheral neuropathies. Large structural rearrangements, deep intronic variants, and epigenetic changes may not be detected by standard NGS. A negative result does not rule out a genetic cause of neuropathy, and further testing may be recommended based on clinical evaluation.

UAE Regulatory & Data Privacy Adherence

  • Data Protection: All genetic data is processed and stored in compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
  • Health Data Security: Information systems and handling protocols adhere to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
  • Clinical Safety: Patient consent and clinical governance follow the standards set by Federal Decree-Law No. 4 of 2016 on Medical Liability.
  • DHA Oversight: The laboratory operates under DHA Facility License No. 1143 and complies with all Dubai Healthcare City regulatory requirements.

Clinical & Logistical Metadata

Test Name KARS1 Gene CMTRIB Genetic Test (NGS)
Price (AED) 2,800 AED
Turnaround Time 3 to 4 weeks
Sample Type / Matrix Peripheral whole blood (3–5 mL in EDTA tube)
Methodology Used Next-Generation Sequencing (NGS) with Sanger confirmation
ICD-10-CM Code G60.0
LOINC Code 94219-8
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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