Test Price
2,800 AED✅ Home Collection Available
CHMP2B Gene Amyotrophic Lateral Sclerosis Type 17 (ALS17) Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited NGS Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in Result Interpretation by Consultant Medical Genetics.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The CHMP2B gene test utilizes Next-Generation Sequencing (NGS) to identify pathogenic variants that cause amyotrophic lateral sclerosis type 17 (ALS17). This autosomal dominant inherited condition affects motor neurons, leading to progressive muscle weakness and atrophy. The test confirms the molecular diagnosis, distinguishes ALS17 from other neurodegenerative disorders, and provides critical information for family risk counseling and clinical management planning.
Our NGS Test vs. Traditional Sanger Sequencing
| Feature | Our NGS Test | Single-Gene Sanger Sequencing |
|---|---|---|
| Precision | 99.9% sensitivity for SNVs and indels | ~95% for common exonic variants |
| Method | Full gene sequencing + deep intronic regions | Exons + flanking splice sites only |
| Turnaround | 3–4 Weeks | 2–3 Weeks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh — Consultant Medical Genetics (DHA Registration ID: 9294403): "Genetic testing for ALS17 provides a definitive molecular diagnosis, which is essential for accurate prognosis and family counseling. However, results must always be interpreted within the full clinical context including neurological examination findings and detailed family history. A positive result confirms a genetic predisposition, not an immediate clinical diagnosis, and a negative result does not exclude other sporadic or genetic forms of ALS. Please engage in a comprehensive pre-test genetic counseling session to fully understand the implications."
Exclusion Criteria & Safety Red Flags
- Inability to provide informed consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Minors without legal guardian consent as required by UAE personal data protection regulations.
- Severe cognitive impairment precluding understanding of test implications and genetic counseling.
- Emergency Indicators: Rapid progressive weakness, breathing difficulty, or choking — seek immediate emergency care; these require urgent neurological evaluation, not solely genetic testing.
Patient FAQ & Clinical Guidance
1. What is the CHMP2B gene test and how does it diagnose ALS type 17?
This NGS test identifies mutations in the CHMP2B gene, confirming the genetic cause of autosomal dominant ALS type 17 with 99.9% accuracy. It helps neurologists distinguish ALS17 from other motor neuron diseases and informs family risk counseling regarding autosomal dominant inheritance patterns.
2. How is the sample collected and what is the turnaround time?
A peripheral whole blood sample is collected by our VIP mobile phlebotomy team via temperature-controlled cold-chain logistics, available daily from 8 AM to 11 PM. Results are reported within 3–4 weeks from sample receipt at the laboratory.
3. Does insurance cover this test and how do I verify coverage?
We offer direct billing verification through WhatsApp at +971 54 548 8731. Most UAE insurers cover neurogenetic testing when deemed medically necessary by a referring neurologist or geneticist. Our team will manage pre-approval and prior authorization with your insurance provider.
4. What does a positive or negative result mean for my health?
A positive result identifies a pathogenic CHMP2B variant consistent with ALS17, which confirms the genetic basis of your condition. A negative result significantly reduces but does not entirely exclude ALS due to mutations in other genes. All results are interpreted by our Consultant Medical Geneticist and accompanied by a detailed clinical report and post-test genetic counseling.
5. Can I take this test if I have symptoms but no family history of ALS?
Yes. Sporadic ALS can occur without a known family history. Testing for CHMP2B and other ALS-associated genes is appropriate when clinical features suggest motor neuron disease, even in isolated cases. A pre-test genetic counseling session is mandatory to ensure informed consent and appropriate test selection.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework: This diagnostic service operates under DHA Facility License Number 1143 and adheres strictly to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing the processing and storage of patient genomic data. All clinical testing and patient consent procedures comply with Federal Decree-Law No. 4 of 2016 on Medical Liability. Health information security protocols satisfy Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring encryption of all genetic data during transmission and archival storage.
Clinical & Logistical Metadata
| Test Name | CHMP2B Gene Sequencing for Amyotrophic Lateral Sclerosis Type 17 (ALS17) – NGS |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (3–5 mL in EDTA tube) or FTA Card DNA |
| Methodology Used | Next-Generation Sequencing (NGS) – Full gene including deep intronic regions |
| ICD-10-CM Code | G12.21 (Amyotrophic lateral sclerosis, familial) |
| LOINC Code | 94845-8 (CHMP2B gene full mutation analysis) |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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