Test Price
2,800 AED✅ Home Collection Available
BSCL2 Gene Lipodystrophy Generalized Type 2 Genetic Test – Dubai, UAE
Executive Summary & Core Metrics
This high-resolution genetic test analyzes the complete coding region of the BSCL2 gene using Next-Generation Sequencing (NGS) to detect pathogenic variants causing Berardinelli-Seip congenital lipodystrophy type 2 (generalized lipodystrophy type 2). It provides accurate diagnostic confirmation for patients presenting with severe insulin resistance, hypertriglyceridemia, and early‑onset metabolic complications. The test is conducted at DNA Labs UAE (DHA Facility License 1143) and supports clinical decision‑making for endocrine and metabolic management.
- Diagnostic Sensitivity: >99.9% for coding region and splice‑site variants in BSCL2
- Price: 2,800 AED (all‑inclusive)
- Turnaround Time: 21–28 calendar days
- Sample Type: Peripheral whole blood (3–5 mL EDTA) or FTA card
- Clinical Oversight: Consultant Medical Genetics, Lina Osama Zaki Quteineh (DHA 9294403)
Test Overview & Methodology
The BSCL2 gene encodes seipin, a protein essential for adipocyte differentiation and lipid droplet homeostasis. Pathogenic variants cause congenital generalized lipodystrophy type 2, a rare autosomal recessive disorder characterised by near‑total absence of subcutaneous fat, severe insulin resistance, hypertriglyceridemia, and hepatic steatosis. Our NGS assay targets all exons, exon‑intron boundaries, and clinically relevant non‑coding regions, achieving uniform depth >100× across the gene.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 100% coverage of all BSCL2 exons, splice sites, and clinically relevant non‑coding regions | Gene region by region; risk of missing deep intronic or mosaic variants |
| Methodology | NGS with full bioinformatics alignment (GRCh38/hg38) | Sanger sequencing of individual exons – requires multiple rounds |
| Turnaround | 3 to 4 weeks | 4 to 6 weeks (sequential exon analysis) |
| Variant Detection Limit | SNVs, indels, and splice‑site variants down to 5% heteroplasmy | SNVs and small indels only; no low‑level mosaic detection |
Physician Insight & Safety Protocols
“Genetic confirmation of BSCL2‑related lipodystrophy is a pivotal step in the diagnostic journey of a patient with severe metabolic disturbance. However, results should never be interpreted in isolation – they must be integrated with clinical findings, endocrine and lipid profiles, and a detailed family history. Our multidisciplinary team at DNA Labs UAE provides comprehensive pre‑ and post‑test counselling to ensure that every patient and referring physician receives the context needed for informed clinical decisions.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory – Medication and Clinical Management
Do not discontinue or alter prescribed metabolic therapy (e.g., insulin, fibrates, metformin, leptin analogues) without consulting your treating physician. Genetic test results complement – but do not replace – ongoing clinical monitoring. Management decisions must be based on a full clinical evaluation, not solely on genetic findings.
Exclusion Criteria and Emergency Red Flags
- Patient unable to provide informed consent or who has not undergone pre‑test genetic counselling.
- Active acute metabolic decompensation (e.g., severe hypertriglyceridemia with pancreatitis, uncontrolled diabetes, or lipodystrophy crisis) – seek emergency medical care before sample collection.
- This test is not intended for acute diagnosis. If you suspect a metabolic emergency, contact emergency services immediately.
- Pregnancy or breastfeeding – consult your obstetrician and genetic counsellor before proceeding.
Patient FAQ & Clinical Guidance
1. Why is genetic counselling required before this BSCL2 test?
Pre‑test genetic counselling ensures that you understand the purpose, limitations, and potential implications of the test. It allows the clinician to document informed consent, review family history, and explain the possibility of incidental findings that may require further evaluation. Counselling also prepares the patient for results that may indicate carrier status or previously unrecognised familial variants.
2. Can this test be performed on a child or infant?
Yes, but parental or guardian consent is mandatory. A paediatric genetics consultation is required prior to testing a minor to ensure that the test is clinically indicated and that the family understands the implications. The sample volume required (3–5 mL whole blood) is safe for children weighing >5 kg.
3. How reliable is NGS for diagnosing generalized lipodystrophy type 2?
Our validated NGS assay achieves >99.9% diagnostic sensitivity for pathogenic and likely pathogenic variants in the coding region and splice sites of BSCL2. Only variants classified according to ACMG/AMP guidelines are reported, and all clinically significant findings are confirmed by Sanger sequencing before release.
4. What if my result shows a variant of uncertain significance (VUS)?
A VUS result is not uncommon in single‑gene testing for rare disorders. Our genetics team will provide a detailed interpretation and, where possible, recommend family segregation studies or functional analyses to reclassify the variant. A follow‑up telephone consultation is included at no additional cost.
5. How do I arrange home sample collection?
We offer VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection daily from 8:00 AM to 11:00 PM. A certified phlebotomist will visit your residence or office within the Dubai Healthcare City catchment area. Schedule your appointment via WhatsApp at +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License 1143 and adheres to all applicable UAE federal data protection and healthcare regulations. Your genetic data is processed and stored in compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the collection, processing, and transfer of personal data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – ensuring the security and confidentiality of health information.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – establishing the standard of care and patient consent requirements for all diagnostic procedures.
Your results are accessible only to you and your designated physician. We do not share genetic data with insurers, employers, or third parties without your explicit written consent.
Clinical & Logistical Metadata
| Test Name | BSCL2 Gene Sequencing – Generalized Lipodystrophy Type 2 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 calendar days (3–4 weeks) |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL EDTA tube) or FTA card – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM–11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina platform, paired‑end 150 bp reads, GRCh38 alignment, variant annotation per ACMG/AMP guidelines |
| ICD-10-CM Code | E88.1 (Lipodystrophy, not elsewhere classified) |
| LOINC Code | 21659-0 (Genetic analysis) |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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