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Test Price

2,800 AED

โœ… Home Collection Available

SLC26A4 Gene Pendred Syndrome Genetic Test in UAE

Executive Summary & Core Metrics

Precision Molecular Diagnosis for Pendred Syndrome

The SLC26A4 Gene Pendred Syndrome Genetic Test employs next-generation sequencing (NGS) to analyze the entire coding region of the SLC26A4 gene, detecting pathogenic variants associated with Pendred syndromeโ€”the most common syndromic cause of hereditary sensorineural hearing loss. This assay delivers 99.9% diagnostic sensitivity through ISO 9001:2015 accredited processing (Cert: INT/EGQ/2509DA/3139) and is overseen by consultant medical genetics professionals licensed by the Dubai Health Authority.

  • โœ“Diagnostic Accuracy: 99.9% sensitivity via full exon NGS with copy number variation (CNV) detection.
  • โœ“Collection Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
  • โœ“Post-Test Support: Complimentary telephonic guidance with a qualified genetic counselor for result interpretation.
  • โœ“Insurance & Billing: Direct billing verification via WhatsApp at +971 54 548 8731.

Test Overview & Methodology

The SLC26A4 Gene Pendred Syndrome Genetic Test is a comprehensive next-generation sequencing assay that interrogates the entire coding region and conserved splice sites of the SLC26A4 gene. This test is designed to confirm a clinical suspicion of Pendred syndrome and guide audiological intervention, thyroid surveillance, and reproductive counseling. The NGS platform enables simultaneous detection of single-nucleotide variants, small insertions or deletions, and copy number variations across all exons, providing a complete molecular profile in a single workflow.

Parameter Our Test โ€” SLC26A4 NGS Closest Alternative (Single-Gene Sanger)
Diagnostic Precision 99.9% Sensitivity โ€” Full exon coverage with CNV detection ~95% โ€” Limited to known hotspot mutations only
Methodology Next Generation Sequencing (NGS) with integrated CNV analysis Sanger sequencing โ€” no CNV detection capability
Turnaround Time 3 to 4 Weeks 4 to 6 Weeks

Physician Insight & Safety Protocols

Clinical Note from Lina Osama Zaki Quteineh โ€” Consultant Medical Genetics, DHA Registration ID: 9294403:

"A confirmed pathogenic variant in SLC26A4 provides a definitive molecular diagnosis of Pendred syndrome, empowering the care team to initiate early audiological rehabilitation, structured thyroid monitoring, and informed family counseling. It is critical that this genetic result is interpreted alongside the complete audiological profile, thyroid function studies, and temporal bone imaging. A negative result does not exclude all hereditary or acquired causes of hearing loss, and ongoing clinical surveillance remains paramount."

Pre-Test Advisory & Clinical Guidance

Advisory โ€“ Mandatory Pre-Test Genetic Counseling

Per UAE regulatory standards, all individuals undergoing hereditary genetic testing for Pendred syndrome must complete a pre-test genetic counseling session. This consultation ensures informed decision-making, discussion of potential implications for family members, and documentation of explicit consent. For minors, written informed consent from a legal guardian is required prior to sample collection.

Exclusion Criteria & Emergency Red Flags

  • Exclusion Criteria: This test is not indicated for individuals with isolated non-syndromic hearing loss without clinical or radiological suspicion of Pendred syndrome. A pre-test genetic counseling session is mandatory before testing proceeds.
  • Emergency Red Flags โ€” Seek Immediate Medical Attention If: Sudden worsening or profound loss of hearing, acute neck swelling with breathing difficulty (possible goiter compression), or signs of severe hypothyroidism (myxedema, bradycardia, hypothermia).
  • Pediatric Safeguard: For minors, written informed consent from a legal guardian and a mandatory genetic counseling session are strictly required prior to sample collection as per Federal Decree-Law No. 4 of 2016 on Medical Liability.

Patient FAQ & Clinical Guidance

1. What is the SLC26A4 gene test for Pendred syndrome, and why is NGS the preferred method?

The SLC26A4 NGS test comprehensively sequences the entire coding region of the pendrin gene to identify pathogenic variants causing Pendred syndrome with 99.9% diagnostic sensitivity. NGS is the preferred methodology because it captures all exonic mutations and copy number variations in a single assay, unlike Sanger sequencing which only targets predefined hotspots and may miss rare or novel variants prevalent in the genetically diverse UAE population.

2. How long does it take to receive results, and what does the 2800 AED fee include?

Results are delivered within 3 to 4 weeks from sample receipt. The 2800 AED fee covers ISO-certified cold-chain home sample collection, full NGS library preparation and sequencing, bioinformatic analysis, a comprehensive clinical report reviewed by a DHA-licensed genetic counselor, and one complimentary telephonic post-test consultation to guide your next clinical steps.

3. Can the SLC26A4 gene test be performed for children, and what are the legal requirements in the UAE?

Yes, the test can be performed for minors in the UAE, provided written informed consent is obtained from the legal guardian and a mandatory genetic counseling session is completed prior to sample collection. This requirement aligns with Federal Decree-Law No. 4 of 2016 on Medical Liability and the UAE Personal Data Protection Law (Federal Decree-Law No. 45 of 2021).

4. What happens after a positive result is confirmed?

A positive result confirming Pendred syndrome enables your care team to implement early audiological intervention, schedule regular thyroid function monitoring, discuss surgical options for goiter if indicated, and provide informed reproductive counseling for family planning. Your genetic counselor will coordinate with your otolaryngologist and endocrinologist to ensure comprehensive management.

UAE Regulatory & Data Privacy Adherence

Trust & Compliance Framework

  • Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ€” Genetic data privacy and processing safeguards.
  • Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ€” Health information systems security.
  • Federal Decree-Law No. 4 of 2016 on Medical Liability โ€” Patient consent and clinical safety standards.
  • ISO 9001:2015 Certified โ€” Cert: INT/EGQ/2509DA/3139 โ€” Quality management system for laboratory operations.
  • DHA Facility License No. 1143 โ€” Regulated by the Dubai Health Authority.

Clinical & Logistical Metadata

Test Name SLC26A4 Gene Pendred Syndrome Genetic Test (NGS)
Price (AED) 2,800
Turnaround Time 3 to 4 Weeks
Sample Type / Matrix Peripheral Whole Blood (DNA extraction)
Methodology Used Next Generation Sequencing (NGS) with CNV Analysis
ICD-10-CM Code E07.1
LOINC Code 81348-3
DHA Facility License & Laboratory Address License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

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