Test Price
2,800 AED✅ Home Collection Available
BCS1L Gene (Björnstad Syndrome) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
✅ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited 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 DHA-licensed experts.
💳 Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Executive Summary
This advanced genetic test offers comprehensive analysis of the BCS1L gene responsible for Björnstad syndrome, with 99.9% diagnostic accuracy, certified home sample collection, and post-result clinical guidance. Full compliance with UAE Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, and Federal Decree-Law No. 4 of 2016 on Medical Liability.
Test Overview & Methodology
The BCS1L Gene (Björnstad Syndrome) Genetic Test uses advanced next-generation sequencing to detect pathogenic variants causing the rare autosomal recessive disorder characterized by pili torti (twisted hair) and congenital sensorineural hearing loss. This test is essential to confirm diagnosis in children and adults presenting with distinctive clinical features.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Precision | Full BCS1L gene sequencing (coding + splice sites) | Targeted mutation panel (limited hotspots) |
| Method | NGS (Illumina platform, 100× mean depth) | Sanger sequencing (single variant only) |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Report | ACMG-compliant variant classification, clinical correlation | Raw genotype, no interpretive guidance |
| Price | 2800 AED | 1500–2000 AED (partial analysis) |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Genetics (DHA Registration ID: 9294403), I emphasize that this NGS test is a definitive diagnostic tool for Björnstad syndrome, but results must be interpreted in the context of complete clinical evaluation, including paediatric audiology and dermatology assessments. Never isolate a genetic finding from the patient’s phenotype and family history. Early diagnosis enables tailored hearing rehabilitation and genetic counselling.” – Lina Osama Zaki Quteineh
Medication Safety Advisory
⚠️ Advisory on Ongoing Treatments:
Do not discontinue or adjust any prescribed medication, including hearing aids or supportive therapies, without consulting your treating physician. This test is diagnostic and does not replace ongoing medical care.
Exclusion Criteria & Emergency Red Flags
- Active severe infection or systemic illness at time of blood draw – may require rescheduling.
- Recent blood transfusion or bone marrow transplant (within 4 weeks) – can interfere with germline DNA analysis.
- Known diagnosis of another genetic syndrome with overlapping features – discuss with laboratory to avoid misinterpretation.
- Self-referral for minors without legal guardian consent is not permitted.
Red Flags: If the patient develops sudden worsening of hearing, neurological symptoms, or signs of metabolic crisis, seek emergency care immediately; this test does not replace urgent paediatric evaluation.
Patient FAQ & Clinical Guidance
1. What does the BCS1L gene test detect, and who should consider it?
This NGS test identifies pathogenic mutations throughout the entire BCS1L gene, confirming Björnstad syndrome in individuals with twisted hair (pili torti) and hearing loss from birth. It is recommended for children and adults with clinical suspicion and for family members to assess inheritance risk.
2. How is the sample collected, and can I do it at home in the UAE?
A DHA-certified phlebotomist collects a small blood sample (or a one-drop FTA card sample) at your home, strictly following ISO-certified cold-chain protocols. VIP Mobile Phlebotomy is available daily from 8 AM to 11 PM. The sample is then transported under temperature-controlled conditions to our laboratory.
3. What happens after I receive the result, and is genetic counselling included?
A DHA-licensed clinical geneticist provides telephonic result interpretation, and a referral to a certified genetic counsellor is arranged to discuss inheritance risks and family planning. Our report includes ACMG-compliant variant classification and clinical correlation.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
This genetic test and associated data handling strictly comply with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring patient genetic data is collected, stored, and processed with explicit consent and robust security measures.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing the secure transmission of electronic health information and clinical records.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – guaranteeing professional accountability, patient safety, and informed consent in all medical procedures.
All sample collection and processing are performed in accordance with the Dubai Health Authority (DHA) regulations for genetic testing and diagnostic services.
Clinical & Logistical Metadata
| Test Name | BCS1L Gene (Björnstad Syndrome) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or FTA card; VIP Mobile Phlebotomy home collection available |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina platform, 100× mean depth, full gene coding regions and splice sites |
| ICD-10-CM Code | Q84.1 (Pili torti), H90.3 (Sensorineural hearing loss) |
| LOINC Code | 55233-1 (Genetic testing for heritable disorder, DNA sequencing) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians