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Test Price

2,800 AED

✅ Home Collection Available

Chromosome 7q11.23 Williams-Beuren Syndrome Genetic Test – 2,800 AED

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) accredited NGS processing, assessed by Consultant Medical Genetics.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across Dubai, Abu Dhabi, and Sharjah.
  • Clinical Guidance: Complimentary tele-genetic counselling session post-test with a DHA-licensed genetic counsellor.
  • Insurance: Direct Billing Verification – send your Emirates ID & policy to WhatsApp +971 54 548 8731.

Test Overview & Methodology

The Chromosome 7q11.23 Williams-Beuren Syndrome Genetic Test uses next‑generation sequencing to detect microdeletions of the ELN and contiguous genes, confirming or ruling out Williams‑Beuren syndrome (WBS). This single test replaces multiple older methodologies, delivering clinically actionable results in 3‑4 weeks with a 99.9% sensitivity rate — trusted by paediatricians and clinical geneticists across the UAE.

Parameter Our NGS Test Closest Alternative (FISH / MLPA)
Diagnostic Precision CNV resolution at single‑exon level Limited to known deletion boundaries
Methodology Next‑Generation Sequencing (NGS) FISH / MLPA with gap regions
Turnaround Time 3–4 Weeks 2–4 Weeks (higher false‑negative risk)

Physician Insight & Safety Protocols

“As a Consultant Medical Geneticist with extensive experience in dysmorphology and paediatric genetics, I emphasize that while this NGS assay offers high sensitivity for 7q11.23 deletions, a positive result must always be correlated with clinical findings and a comprehensive cardiac evaluation. A negative result does not entirely exclude low-level mosaicism; clinical judgement remains paramount. Families should not alter any prescribed therapy without first consulting their child’s physician.”

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

Medication Advisory

Do not discontinue prescribed medications (e.g., beta‑blockers for supravalvular aortic stenosis, calcium supplements for hypocalcemia) without explicit medical guidance. Abrupt changes may lead to serious cardiac instability or metabolic complications.

Exclusion Criteria & Emergency Indicators

  • Active febrile illness or haemodynamic instability at the time of sample collection.
  • Known severe bleeding diathesis (INR > 2.0) without medical clearance.
  • Emergency red flags: sudden chest pain, syncope, or signs of acute heart failure – seek immediate emergency care; this test is not intended for acute diagnosis.

Patient FAQ & Clinical Guidance

1. What is the 7q11.23 Williams‑Beuren syndrome NGS test, and why is it performed in the UAE?

This next‑generation sequencing assay detects microdeletions of chromosome 7q11.23, definitively diagnosing Williams syndrome with 99.9% sensitivity, reducing diagnostic delay and guiding early cardiovascular intervention in UAE children.

2. How is the sample collected, and is home collection available for this genetic test?

A simple blood draw, dried blood spot on FTA card, or previously extracted DNA is accepted. Our ISO‑certified phlebotomists provide a temperature‑controlled cold‑chain home collection anywhere in Abu Dhabi, Dubai, or Sharjah from 8 AM to 11 PM daily.

3. Do I need a genetic counselling session before the test, and is it included?

A pre‑test genetic counselling session is strongly recommended to draw a pedigree of affected family members; this consultation is included in the testing package and is conducted via secure tele‑health by a DHA‑licensed genetic counsellor.

UAE Regulatory & Data Privacy Adherence

This service complies with 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. All genetic data is processed under strict confidentiality protocols.

Clinical safety and patient consent follow the provisions of Federal Decree‑Law No. 4 of 2016 on Medical Liability.

Clinical & Logistical Metadata

Test Name Chromosome 7q11.23 Williams-Beuren Syndrome Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Whole Blood, Dried Blood Spot (FTA card), or Extracted DNA
Methodology Used Next‑Generation Sequencing (NGS)
ICD‑10‑CM Code Q93.82 (Williams syndrome), Z13.79 (Encounter for genetic testing for other genetic disorders), Z15.09 (Genetic susceptibility to other disease)
LOINC Code 95395-7 Chromosome 7q11.23 copy number [Presence] in Blood or Tissue by Molecular genetics method
DHA Facility License & Laboratory Address DHA License No: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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