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Test Price

2,800 AED

✅ Home Collection Available

ELN Gene Supravalvar Aortic Stenosis Genetic Test in UAE

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 ELN Gene Supravalvar Aortic Stenosis Genetic Test detects pathogenic variants in the ELN gene responsible for supravalvular aortic stenosis (SVAS), Williams syndrome, and related connective tissue disorders. By utilizing Next Generation Sequencing (NGS) with comprehensive coverage of coding regions, this assay delivers a definitive molecular diagnosis essential for cardiological management, genetic counseling, and familial risk assessment.

Feature Our NGS Test (ELN Full Gene) Conventional Sanger Sequencing
Detection Precision 99.9% analytical sensitivity; covers all exons, intron-exon boundaries Limited to known mutation hotspots; may miss large deletions
Methodology Illumina NovaSeq X NGS, 100x depth, GRCh38 alignment, ACMG variant classification Sanger sequencing, limited multiplexing
Turnaround Time 3–4 Weeks 4–6 Weeks (smaller scope)

Physician Insight & Safety Protocols

“A molecular diagnosis of ELN-related disorders provides critical information for clinical management and family planning. It is essential that results are interpreted in conjunction with a comprehensive clinical evaluation including echocardiographic assessment. Patients should never discontinue prescribed medications without direct medical advice.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Safety Advisory & Pre-Test Requirements

Pre-Test Requirements

A detailed clinical history and a mandatory genetic counseling session are required. The counselor will draw a pedigree chart documenting family members affected by ELN-related conditions. No fasting or medication stoppage is needed unless advised by your physician. Acceptable sample types: whole blood (EDTA tube), extracted DNA, or FTA card. VIP Mobile Phlebotomy home collection is available daily from 8 AM to 11 PM.

Patient Exclusion & Emergency Red Flags

Exclusion Criteria

  • Exclusion Criteria: Minors without legal guardian consent in accordance with UAE Federal laws on medical liability and parental consent; inability to provide blood/DNA sample; non‑adherence to mandatory pre‑test genetic counseling and pedigree charting.
  • Emergency Red Flags: This is a non‑urgent genetic test. If you experience acute chest pain, severe dyspnea, syncope, or signs of a cardiac emergency, proceed immediately to the nearest emergency department — do not wait for test results.

Patient FAQ & Clinical Guidance

1. What conditions does the ELN gene test detect?

This test identifies pathogenic variants in the ELN gene linked to supravalvular aortic stenosis, Williams syndrome, and cutis laxa. It guides cardiology follow‑up, surgical planning, and family screening.

2. How accurate is the Genetic Test?

With 99.9% analytical sensitivity, the NGS assay covers all ELN coding exons and splice sites using ISO‑accredited protocols, delivering a conclusive molecular result in 3–4 weeks.

3. Why is genetic counseling required before this test?

Pre‑test counseling is mandatory to assess personal and family risk, draw a pedigree, and ensure informed consent in compliance with UAE genetic testing laws and ethical standards.

UAE Regulatory & Data Privacy Adherence

Regulatory Compliance & Accreditation: This test is performed in an ISO 9001:2015 certified laboratory (Cert: INT/EGQ/2509DA/3139) and strictly adheres to 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. Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. DHA-licensed clinical oversight guarantees E‑E‑A‑T standards.

Clinical & Logistical Metadata

Test Name ELN Gene Supravalvar Aortic Stenosis Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Whole blood (EDTA tube), extracted DNA, or FTA card
Methodology Used Next Generation Sequencing (NGS) – Illumina NovaSeq X, 100x depth, ACMG variant classification
ICD-10-CM Code Q25.3, Z15.89, Z13.79
LOINC Code 94745-7
DHA Facility License & Laboratory Address DHA Facility License Number: 1143
Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Corporate Lab Branding: DNA Labs UAE

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