Test Price
2,800 AED✅ Home Collection Available
BSCL2 Gene – Distal Hereditary Motor Neuropathy Type 5A Genetic Test in UAE | 2,800 AED | 2026 DHA Guidelines
تحليل جين BSCL2 للاعتلال العصبي الحركي الوراثي البعيد من النوع الخامس أ في الإمارات | 2,800 درهم | معتمد من هيئة الصحة بدبي 2026
Executive Summary — الملخص التنفيذي
تحليل تسلسل الجينوم الكامل لجين BSCL2 باستخدام تقنية التسلسل من الجيل التالي (NGS) للكشف عن الطفرات المسببة للاعتلال العصبي الحركي الوراثي البعيد من النوع 5A. يُجرى التحليل في مختبر معتمد دولياً وفقاً لمعايير الأيزو 9001:2015 وتحت إشراف هيئة الصحة بدبي، مع ضمان خصوصية البيانات الكاملة وفقاً لقانون حماية البيانات الشخصية الإماراتي والمرسوم بقانون اتحادي رقم 41 لسنة 2024.
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
- ✓ Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Transport & VIP Mobile Phlebotomy (8 AM – 11 PM, Dubai & Northern Emirates).
- ✓ Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation with a qualified neurogenetics counsellor.
- ✓ Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Overview
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, typically beginning in adolescence or early adulthood. 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 3 to 4 weeks. يُعد هذا التحليل الجيني الشامل أداة تشخيصية دقيقة للكشف المبكر عن الاعتلال العصبي الحركي الوراثي البعيد.
| 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 | 3 to 4 Weeks | 6 to 8 Weeks |
| Price | 2,800 AED | Variable (1,500 – 3,500 AED) |
| Sample Types Accepted | Whole Blood, Extracted DNA, or FTA Card (one drop) | Whole Blood only |
| ISO 9001:2015 Certified | ✓ Yes (INT/EGQ/2509DA/3139) | ✗ Often Not Certified |
Physician Insight & Safety Protocol
Clinical Note from Dr. Prabhakar Reddy (DHA License: 61713011, Consultant Neurologist): “A positive BSCL2 variant confirms the molecular diagnosis of dHMN5A and enables accurate genetic counselling for family members; however, a negative result does not entirely exclude hereditary neuropathy, as other genes may be implicated. I strongly recommend that patients discuss their results with a DHA-licensed neurologist or clinical geneticist to correlate molecular findings with electromyography (EMG) and nerve conduction studies before making any clinical decisions.”
⚠ MEDICATION WARNING: Do not discontinue any prescribed medication or alter your treatment regimen based on genetic test results without consulting your treating physician. Genetic findings must be interpreted within the full clinical context.
🛡 Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Do Not Proceed Without Physician Clearance):
- Acute febrile illness or active systemic infection at time of blood draw.
- Recent blood transfusion or hematopoietic stem cell transplant (within 90 days) – may confound germline DNA analysis.
- Uncontrolled psychiatric condition impairing informed consent capacity.
- Minors (<18 years) without court-appointed guardian consent per UAE CDS Law 2026.
Emergency Red Flags – Seek Immediate Medical Attention:
- Acute-onset bilateral leg weakness or foot drop with rapid progression.
- New-onset respiratory difficulty or dysphagia.
- Unexplained falls or loss of ambulation within days.
- Severe muscle cramps with dark urine (rhabdomyolysis concern).
If you experience any of the above red-flag symptoms, proceed to the nearest Emergency Department immediately. Do not wait for genetic test results.
Patient FAQ & Clinical Guidance
Q1: What is the BSCL2 gene test and why is it recommended for suspected hereditary motor neuropathy?
Snippet Answer: 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 such as Charcot-Marie-Tooth disease type 2 or amyotrophic lateral sclerosis (ALS). Pre-test genetic counselling is mandatory at our facility to ensure informed consent.
س1: ما هو تحليل جين BSCL2 ولماذا يُوصى به للاشتباه في الاعتلال العصبي الحركي الوراثي؟
تحليل تسلسل الجيل التالي لجين BSCL2 يكشف الطفرات المسببة للاعتلال العصبي الحركي البعيد من النوع 5A، مما يوفر تشخيصاً جزيئياً دقيقاً ويوجه خطة العلاج والمتابعة السريرية.
Q2: How long does it take to receive BSCL2 genetic test results in the UAE and what does the 2,800 AED fee include?
Snippet Answer: The BSCL2 Genetic Test delivers comprehensive results within 3 to 4 weeks, and the 2,800 AED all-inclusive fee covers pre-test genetic counselling, hospital-grade home sample collection, ISO-accredited NGS sequencing, bioinformatic analysis, and a post-test telephonic clinical guidance session with interpretation support.
The turnaround time of 3 to 4 weeks reflects the rigorous quality control steps inherent to ISO 9001:2015-certified NGS workflows, including library preparation, sequencing at minimum 100x depth, variant calling, and clinical interpretation by board-certified molecular geneticists. Expedited processing is not available for this test due to the complexity of analysis. Direct billing verification with major UAE insurers is available via WhatsApp.
س2: كم تستغرق نتيجة تحليل جين BSCL2 في الإمارات وماذا تشمل رسوم 2,800 درهم؟
تستغرق النتائج من 3 إلى 4 أسابيع، وتشمل الرسوم الاستشارة الوراثية، وسحب العينة منزلياً، والتحليل المخبري المعتمد، وجلسة تفسير النتائج مع أخصائي الوراثة العصبية.
Q3: Is a doctor's referral mandatory for the BSCL2 genetic test in the UAE, and how is my genetic data protected?
Snippet Answer: A valid referral from a DHA-licensed neurologist or clinical geneticist is mandatory for this test under Federal Decree-Law No. 41 of 2024 (Article 87), and all genetic data is protected under the UAE Personal Data Protection Law (PDPL) with strict encryption, ISO-certified data governance, and prohibition of third-party sharing without explicit consent.
Under UAE healthcare regulations, genetic testing requires physician oversight to ensure clinical appropriateness and proper pre- and post-test counselling. Minors are additionally protected under the UAE CDS Law 2026, requiring guardian consent and court approval where applicable. Your genetic data is stored on encrypted servers within the UAE, compliant with PDPL and Health Data Protection standards, and is never shared with insurance providers or employers without your written authorization.
س3: هل يشترط تحويل طبي لإجراء تحليل جين BSCL2 في الإمارات وكيف تتم حماية بياناتي الجينية؟
نعم، يشترط تحويل من طبيب أعصاب أو اختصاصي وراثة سريرية مرخص من هيئة الصحة بدبي، وتُحمى البيانات الجينية بموجب قانون حماية البيانات الشخصية الإماراتي والمرسوم بقانون اتحادي رقم 41 لسنة 2024 مع تشفير كامل وخوادم محلية آمنة.
Pre-Test Requirements & Sample Collection
- Clinical History: A comprehensive clinical history detailing onset, progression, and family history of neuropathy is required prior to testing.
- Genetic Counselling: A mandatory genetic counselling session to draw a pedigree chart of family members affected with BSCL2-related neuropathy must be completed before sample collection.
- Accepted Sample Types: Whole Blood (EDTA tube), Extracted DNA (minimum 1 µg), or One Drop of Blood on FTA Card.
- Home Collection: Available 8 AM – 11 PM across Dubai, Abu Dhabi, Sharjah, Ajman, Ras Al Khaimah, Fujairah, and Umm Al Quwain.
- Fasting: Not required for this.
Facility License: 9834453 | ISO 9001:2015 Certification: INT/EGQ/2509DA/3139
Regulatory Compliance: Federal Decree-Law No. 41 of 2024 (Art. 87) | UAE CDS Law 2026 (Minors) | UAE PDPL (Data Privacy) | DHA-MOHAP Standard Nomenclature
ICD-10-CM Codes (2026): G12.1 (Other inherited spinal muscular atrophy – distal hereditary motor neuropathy), G60.0 (Hereditary motor and sensory neuropathy), Z82.3 (Family history of diseases of the nervous system)
LOINC Code: 77669-8 – BSCL2 gene mutations found in Blood or Tissue by Molecular genetics method
Methodology: Next-Generation Sequencing (NGS) with confirmatory Sanger sequencing of all reported variants. Minimum 100x read depth across all coding exons and ±10 bp intronic splice-site boundaries of the BSCL2 gene (NM_001122955.4).
Support: WhatsApp +971 54 548 8731 | Phone: +971 54 548 8731
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