Test Price
2,800 AEDโ Home Collection Available
KIF1B Gene CMT2A1 Next-Generation Sequencing Genetic Test in UAE โ 2800 AED
Executive Summary & Core Metrics
- โDiagnostic Accuracy: 99.9% analytical sensitivity and specificity via ISO-accredited NGS platform.
- โElite Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
- โPost-Test Clinical Guidance: Complimentary 15-minute telephonic interpretation session with a clinical genetic counsellor.
- โInsurance Compliance: Direct billing verification and pre-authorisation assistance via WhatsApp +971 54 548 8731.
Core Performance Metrics:
- Analytical Sensitivity & Specificity: >99.9%
- Turnaround Time: 3โ4 weeks (expedited available)
- Certified under ISO 9001:2015 โ DHA License No. 1143
- ACMG-compliant variant interpretation
Test Overview & Methodology
This advanced DNA test examines the entire coding region of the KIF1B gene using Next-Generation Sequencing to identify pathogenic variants linked to autosomal dominant Charcot-Marie-Tooth disease type 2A1. The assay provides definitive molecular confirmation for patients presenting with progressive distal weakness, sensory loss, and foot deformities, enabling precise genetic counselling and tailored management.
| Feature | Our KIF1B NGS Test (ISO 9001:2015) | Alternative (Whole Exome Sequencing / Gene Panel) |
|---|---|---|
| Diagnostic Precision | Targeted deep sequencing with >100x mean coverage, reporting all ACMG classes | Broader scope but risk of incidental findings and lower coverage on KIF1B |
| Methodology | Next-Generation Sequencing (NGS) โ state-of-the-art platform | Older NGS or Sanger-based multi-step testing |
| Turnaround Time | 3โ4 Weeks (expedited available) | 6โ8 Weeks typical |
| Regulatory Compliance | DHA and MOHAP approved, ISO 9001:2015 certified, compliant with UAE PDPL and Federal Law No. 2 of 2019 | Varies; often lacks local regulatory alignment |
Physician Insight & Safety Protocols
โAs a Consultant Medical Genetics, I understand the profound impact a genetic diagnosis can have on patients and their families. This test delivers high-confidence results for CMT2A1, but it must be interpreted alongside a thorough clinical phenotyping and family history. A negative result does not exclude all hereditary neuropathies, and variants of uncertain significance require careful contextualization. Our team is dedicated to providing compassionate, evidence-based guidance throughout the diagnostic journey.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Critical Advisory: Medication and Clinical Context
Do not discontinue or adjust any prescribed medication, including neuropathic pain agents, without explicit instruction from your treating physician. Genetic test results should only be interpreted within the context of your overall neurological status, family history, and clinical examination.
Safety Exclusion Criteria & Red Flags
- This test is not intended for emergency diagnosis or acute neurological collapse.
- Minors (<18 years) require consent from legal guardian as per UAE Medical Liability Law (Federal Decree-Law No. 4 of 2016).
- Individuals without suggestive clinical signs or a confirmed family history of CMT2A1 should undergo pre-test genetic counselling first.
Seek immediate emergency care if you experience sudden respiratory difficulty, rapid progression of weakness, or loss of bladder/bowel controlโthese are not typical of CMT2A1 and require urgent evaluation.
Patient FAQ & Clinical Guidance
1. What is the accuracy of this KIF1B gene test for diagnosing CMT2A1?
This NGS assay achieves >99.9% analytical sensitivity for detecting single nucleotide variants and small insertions/deletions in the KIF1B coding region. Clinical correlation is mandatory as some variants may remain of uncertain significance.
2. When will I receive my results and how will they be communicated?
Final report is issued within 3 to 4 weeks from sample receipt. You will receive a secure PDF with variant interpretation, ACMG classification, and a complimentary telephonic counselling session with our clinical geneticist.
3. Is home blood collection available and does insurance cover this test?
Yes, we deploy DHA-licensed phlebotomists for home or workplace sample collection from 8 AM to 11 PM. Many UAE insurers cover genetic testing for hereditary neuropathies; our team assists with prior authorization via WhatsApp at +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
This service is fully compliant 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. All genetic data is stored exclusively on sovereign UAE cloud servers. The laboratory operates under DHA Facility License No. 1143 and holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139). Reports are intended for clinical use and must be reviewed by a DHA-licensed specialist.
Patient privacy and data security are paramount. No genetic information is shared with third parties without explicit written consent, except as required by UAE law.
Clinical & Logistical Metadata
| Test Name | KIF1B Gene Sequencing for Charcot-Marie-Tooth Disease Type 2A1 (CMT2A1) โ NGS |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 weeks (expedited available) |
| Sample Type / Matrix | Peripheral whole blood (EDTA) โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available |
| Methodology Used | Next-Generation Sequencing (NGS) โ targeted gene analysis |
| ICD-10-CM Code | G60.0 |
| LOINC Code | 82789-9 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
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All reports reviewed by DHA-Certified physicians