Test Price
2,800 AED✅ Home Collection Available
BSCL2 Gene Sequencing: Distal Hereditary Motor Neuropathy Type 5A Genetic Test in UAE
Executive Summary & Core Metrics
The BSCL2 Gene NGS Test utilizes next-generation sequencing (NGS) to identify pathogenic variants in the BSCL2 gene, providing a definitive molecular diagnosis for Distal Hereditary Motor Neuropathy Type 5A (dHMN5A). This ISO 15189:2022 accredited assay ensures 99.9% diagnostic sensitivity across all coding exons and splice-site junctions.
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189:2022 Accredited NGS Processing.
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all Emirates.
- ✓ Clinical Guidance: Post-test telephonic interpretation session with a DHA-licensed Consultant Medical Geneticist.
- ✓ Insurance: Direct Billing Verification available via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The BSCL2 Gene NGS Test detects pathogenic variants in the BSCL2 gene associated with Distal Hereditary Motor Neuropathy Type 5A (dHMN5A), a rare autosomal dominant motor neuron disorder characterized by progressive distal muscle weakness and atrophy. This comprehensive next-generation sequencing analysis examines all coding exons and splice-site boundaries of the BSCL2 gene with >99% analytical sensitivity, delivering clinically actionable results within 10 to 14 business days. This molecular test is essential for differentiating dHMN5A from other motor neuron disorders such as Charcot-Marie-Tooth disease type 2 or amyotrophic lateral sclerosis (ALS).
| Feature | Our Test — NGS Comprehensive | Closest Alternative — Single-Gene Sanger |
|---|---|---|
| Methodology | NGS (Next-Generation Sequencing) – Full gene coverage | Sanger Sequencing – Targeted exon analysis only |
| Diagnostic Sensitivity | 99.9% (ISO-Accredited) | ~85–90% (Limited coverage) |
| Turnaround Time | 10 to 14 Business Days | 6 to 8 Weeks |
| Price | 2,800 AED | Variable (1,500 – 3,500 AED) |
| Sample Types Accepted | Whole Blood, Extracted DNA, or Buccal Swab / FTA Card | Whole Blood only |
| ISO 15189:2022 Certified | ✓ Yes | ✗ Often Not Certified |
Physician Insight & Safety Protocols
Clinical Guidance from Dr. Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Reg: 9294403): “A positive BSCL2 variant provides a definitive molecular diagnosis of dHMN5A, facilitating targeted genetic counselling and risk assessment for at-risk relatives. However, a negative result does not eliminate a hereditary neuropathy, as mutations in other genes such as HSPB1, HSPB8, or GARS can produce overlapping phenotypes. All results should be correlated with clinical findings and neurophysiological studies before clinical application.”
Therapeutic Advisory Notice
⚠ PRESCRIPTION STABILITY WARNING: Do not discontinue, alter, or adjust any prescribed medication or therapeutic regimen based solely on genetic test results without direct consultation and approval from your treating physician. Genetic findings must be interpreted within the full clinical context and are not standalone directives for clinical action.
Clinical Safety Exclusion Criteria & Emergency Indicators
Exclusion Criteria (Do Not Proceed Without Physician Clearance):
- Active hematological malignancy or coagulopathy contraindicating venipuncture.
- Current enrollment in a conflicting clinical trial or gene therapy protocol.
- Inability to provide informed consent per Federal Decree-Law No. 4 of 2016 on Medical Liability.
Emergency Red Flags – Seek Immediate Medical Attention:
- Sudden onset of respiratory insufficiency or bulbar weakness.
- Rapidly progressive ascending paralysis suggestive of Guillain-Barré syndrome.
- Signs of acute metabolic crisis or rhabdomyolysis (severe cramps with dark urine).
If you or a family member experiences any of the above red-flag symptoms, proceed to the nearest Emergency Department immediately without waiting for genetic test results.
Patient FAQ & Clinical Guidance
1. What is the BSCL2 gene test and why is it recommended for suspected hereditary motor neuropathy?
The BSCL2 Genetic Test analyzes all coding regions of the BSCL2 gene using next-generation sequencing to identify pathogenic variants causing distal hereditary motor neuropathy type 5A, enabling definitive molecular diagnosis, guiding treatment decisions, and informing family planning through accurate genetic risk assessment. This test is recommended when a patient presents with progressive distal muscle weakness, particularly affecting the hands and feet, with a family history suggestive of autosomal dominant inheritance. A positive result confirms dHMN5A and differentiates it from other motor neuron disorders. Pre-test genetic counselling is mandatory at our facility to ensure informed consent.
2. How long does it take to receive BSCL2 genetic test results in the UAE and what does the 2,800 AED fee include?
The BSCL2 Genetic Test delivers comprehensive results within 10 to 14 business days, and the 2,800 AED all-inclusive fee covers pre-test genetic counselling, hospital-grade home sample collection via VIP mobile phlebotomy, ISO 15189:2022-accredited NGS sequencing, bioinformatic analysis, and a post-test telephonic clinical guidance session with Dr. Lina Osama Zaki Quteineh. The turnaround time reflects the rigorous quality control steps inherent to accredited NGS workflows, including library preparation, sequencing at minimum 100x depth, variant calling, and clinical interpretation. Expedited processing is not available for this test due to the complexity of analysis.
3. Is a doctor's referral mandatory for the BSCL2 genetic test in the UAE?
Yes, a valid referral from a DHA-licensed neurologist or clinical geneticist is mandatory to ensure clinical appropriateness and proper pre- and post-test counselling. Under UAE healthcare regulations codified in Federal Law No. 2 of 2019 and Federal Decree-Law No. 4 of 2016, genetic testing requires physician oversight. Minors require guardian consent and court approval where applicable. Direct billing verification with major UAE insurers is available via WhatsApp.
4. How is my genetic data protected during and after testing?
Your genetic data is protected under 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. Data is stored on encrypted servers within the UAE, access is strictly limited to authorized clinical personnel, and third-party sharing (including insurance providers or employers) is prohibited without your explicit written consent. DNA Labs UAE complies with all DHA and MOHAP data governance standards.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE strictly adheres to the UAE's comprehensive data protection and healthcare regulatory framework. All genetic testing and data handling procedures comply 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. Clinical safety and patient consent protocols are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Our facility is DHA-licensed (License No. 1143) and operates in full alignment with the Dubai Healthcare City Authority (DHCA) regulations.
Clinical & Logistical Metadata
| Test Name | BSCL2 Gene – Distal Hereditary Motor Neuropathy Type 5A (dHMN5A) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 10 to 14 Business Days |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Buccal Swab / FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Coverage (ISO 15189:2022 Accredited) |
| ICD-10-CM Code | G12.29, G60.0 |
| LOINC Code | 77669-8 |
| DHA Facility License & Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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