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Test Price

2,800 AED

✅ Home Collection Available

BSND Gene (Bartter Syndrome Type 4A) Genetic Test in UAE | 2800 AED

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 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.

  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The BSND Gene NGS test screens for pathogenic variants causing Bartter Syndrome Type 4A, a rare autosomal recessive tubulopathy characterized by salt-wasting, hypokalemia, metabolic alkalosis, and sensorineural deafness. This advanced test performs full sequencing of the BSND gene to confirm diagnosis, identify carrier status, and guide reproductive decisions.

Feature Our Test (BSND NGS) Closest Alternative (Targeted Genotyping/WES)
Precision >99% analytic sensitivity and specificity for BSND variants May miss novel or deep intronic variants; lower resolution
Method High-depth Next-Generation Sequencing (NGS) with full BSND exon and splice site coverage Sanger sequencing of limited hotspots or exome-wide with insufficient BSND coverage
Speed 3 to 4 Weeks 6–8 Weeks (exome) or 2–3 Weeks (limited panel)

Physician Insight & Safety Protocols

As a clinical geneticist, I emphasize that this test provides definitive molecular confirmation for suspected Bartter syndrome type 4A. The result must be integrated with electrolyte profiles and audiological assessments. A positive finding enables targeted treatment and family counselling.

— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403

Important Advisory

Do not discontinue prescribed medications such as potassium supplements or spironolactone without consulting your physician. Abnormal electrolyte levels require immediate medical oversight. Genetic test results should not replace ongoing clinical monitoring.

Exclusion Criteria & Emergency Red Flags

  • Minors without documented parental/guardian consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
  • Severe coagulation disorder (e.g., hemophilia) if blood sample required.
  • Incomplete pre-test genetic counselling session or missing pedigree chart.
  • Acute kidney injury, severe dehydration, or active cardiac arrhythmia – seek emergency care before sample collection.

Patient FAQ & Clinical Guidance

1. What is the BSND gene test and who should consider it?

The BSND NGS test identifies mutations in the gene responsible for Bartter Syndrome Type 4A, aiding diagnosis in individuals with unexplained hypokalemia, metabolic alkalosis, and sensorineural hearing loss. This test is recommended for children or adults presenting with salt-wasting, polyuria, and failure to thrive, especially when accompanied by early-onset deafness. Family members of a confirmed carrier can also benefit from cascade testing to assess reproductive risk.

2. How do I prepare for the test and what is the sample collection process?

A prior genetic counselling session to document a three-generation pedigree is mandatory, after which a blood sample can be collected at your location via our VIP Mobile Phlebotomy service available daily from 8 AM to 11 PM. Our DHA-licensed phlebotomist ensures cold-chain transport to the laboratory. If you cannot provide a fresh blood sample, previously extracted DNA may be submitted under strict chain-of-custody protocols.

3. What does a positive result mean for my family?

A positive result confirms the diagnosis of Bartter Syndrome Type 4A and indicates that both parents are likely carriers. Siblings have a 25% risk of being affected. Genetic counselling and cascade testing for at-risk relatives are strongly recommended to guide family planning and early intervention.

UAE Regulatory & Data Privacy Adherence

This genetic test is conducted in strict compliance with UAE 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. Your genetic data is encrypted, processed with explicit consent, and used solely for diagnostic purposes. Laboratory operations maintain ISO 9001:2015 certification. All clinical interpretations require correlation with patient history and are not a substitute for professional medical advice.

Clinical & Logistical Metadata

Test Name BSND Gene (Bartter Syndrome Type 4A) Genetic Test – NGS
Price (AED) 2,800 AED
Turnaround Time 3 to 4 Weeks
Sample Type / Matrix Whole Blood (EDTA) or Extracted DNA
Methodology Used Next-Generation Sequencing (NGS) – Full BSND exon and splice site coverage
ICD-10-CM Code E26.81 (Bartter syndrome)
LOINC Code 81313-4 (BSND gene mutation analysis)
DHA Facility License & Address License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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