Test Price
2,800 AED✅ Home Collection Available
BSCL2 (Seipin) Gene Progressive Encephalopathy Genetic Test in UAE | NGS Sequencing | 2800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189:2022 & CAP Accredited Processing.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM – 11 PM).
Clinical Guidance: Telephonic Post-Test Clinical Guidance by a Consultant Medical Geneticist.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The BSCL2 (Seipin) Gene Progressive Encephalopathy with or without Lipodystrophy Genetic Test utilises advanced next-generation sequencing (NGS) to analyse the entire coding region and exon-intron boundaries of the BSCL2 gene. This comprehensive approach detects pathogenic single nucleotide variants, small insertions or deletions, and copy number variations (CNVs) associated with severe, early-onset neurodegenerative disorders and congenital generalised lipodystrophy type 2 (CGL2). The test provides precise molecular data to guide clinical management, prognostication, and informed family planning.
| Feature | Our Test – BSCL2 NGS | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Precision | 99.9% analytical sensitivity (full coding region + CNV detection) | ~95% sensitivity; limited to known hotspot exons |
| Method | Next‑Generation Sequencing (NGS) – comprehensive gene panel | Sanger sequencing – sequential exon‑by‑exon |
| Speed (TAT) | 3 to 4 weeks | 4 to 8 weeks |
| Price | 2,800 AED (all inclusive) | Often 3,500+ AED per gene |
Physician Insight & Safety Protocols
A Note from Consultant Medical Geneticist Lina Osama Zaki Quteineh (DHA License: 9294403)
"The comprehensive coverage provided by NGS for the BSCL2 gene allows us to identify pathogenic variants with high diagnostic yield. However, results must always be interpreted strictly within the broader clinical context and correlated with neurological and metabolic findings. A negative sequencing result does not entirely exclude a genetic etiology, and variants of uncertain significance may require further familial segregation analysis. I strongly advise all patients to schedule a dedicated post-test consultation with their referring neurologist or our clinical genetics team for integrated management planning."
Medication Advisory
Medication Warning
Do not discontinue, alter, or adjust any prescribed medication, including antiepileptic or metabolic therapies, without direct consultation with your treating physician. Genetic test results are intended to inform long-term management and should never replace acute clinical judgment.
Test Suitability & Emergency Precautions
Exclusion Criteria & Important Safeguards
- Exclusion Criteria: Active febrile illness or systemic infection may necessitate sample rescheduling. Recent blood transfusion (within 4 weeks) can interfere with germline DNA analysis and should be disclosed prior to collection.
- Mandatory Requirement: A pre-test genetic counseling session is mandatory to document informed consent and construct a three-generation pedigree, strictly adhering to the Medical Liability Law (Federal Decree-Law No. 4 of 2016).
- ER Red Flags: If the patient experiences sudden loss of consciousness, new-onset or prolonged seizures, severe headache with vomiting, or acute confusion, seek immediate emergency medical care. Do not wait for genetic test results to initiate emergency intervention.
- Minors: Genetic testing of individuals under 18 years requires explicit legal guardian consent and age-appropriate genetic counseling, in full compliance with UAE federal health data regulations.
Patient FAQ & Clinical Guidance
1. What does the BSCL2 gene NGS test detect?
This advanced NGS test detects disease-causing mutations in the BSCL2 gene, which are responsible for progressive encephalopathy and congenital generalised lipodystrophy type 2 (CGL2). It identifies point mutations, small insertions or deletions, and large copy number changes that may be missed by traditional sequencing methods.
2. How should I prepare for the BSCL2 genetic blood draw?
No fasting is required for this genetic test. However, a mandatory pre-test genetic counseling session must be completed via telemedicine or in person prior to sample collection to ensure informed consent and accurate clinical correlation.
3. How accurate is the BSCL2 NGS test, and can it miss mutations?
The test offers a diagnostic sensitivity of 99.9% for coding region variants. However, it may not detect deep intronic mutations, large structural rearrangements involving repetitive regions, or epigenetic changes. A comprehensive negative result does not completely rule out a genetic basis for the condition, and further specialised testing may be recommended based on clinical suspicion.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance Framework
DNA Labs UAE strictly adheres to the 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 processed with explicit written patient consent, stored on encrypted, access-controlled servers, and handled exclusively by licensed medical professionals. Our laboratory fully complies with Dubai Healthcare City (DHCC) health information confidentiality and security standards, ensuring your genetic privacy is protected at all stages.
Clinical & Logistical Metadata
| Test Name | BSCL2 (Seipin) Gene Sequencing & CNV Analysis (Progressive Encephalopathy / Lipodystrophy) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral Whole Blood (3-5 mL in EDTA Lavender Top Tube) |
| Methodology Used | Next-Generation Sequencing (NGS), Full Gene Coverage & CNV Detection |
| ICD-10-CM Code | G31.89, E88.1 |
| LOINC Code | 94800-0 |
| DHA Facility License & Address | DNA Labs UAE | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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