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Test Price

2,800 AED

✅ Home Collection Available

TAZ Gene Barth Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

  • 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS processing (Cert: INT/EGQ/2509DA/3139).
  • Premium Hospital-Grade Home Collection (ISO Certified Cold-Chain) & VIP Mobile Phlebotomy, 8 AM–11 PM.
  • Telephonic Post‑Test Clinical Guidance for result interpretation by a DHA‑licensed Consultant Medical Geneticist.
  • Direct Insurance Billing Verification via WhatsApp: +971 54 548 8731.

Test Overview & Methodology

This definitive Next‑Generation Sequencing (NGS) assay evaluates the entire coding region and flanking intronic sequences of the TAZ gene to diagnose Barth syndrome—a rare X‑linked mitochondrial disorder characterized by infantile‑onset cardiomyopathy, cyclic neutropenia, skeletal myopathy, and 3‑methylglutaconic aciduria. The test provides whole‑gene coverage including deep intronic regions and copy‑number analysis, achieving >99% diagnostic sensitivity for all known pathogenic variants.

Feature Our NGS Test Closest Alternative (Single‑Gene Sanger)
Methodology Next‑Generation Sequencing (NGS) – whole‑gene coverage including deep intronic and copy‑number analysis Sanger sequencing – targeted to known point mutations only
Turnaround Time 3 to 4 weeks 6 to 8 weeks
Diagnostic Yield >99% for all TAZ pathogenic variants Limited by prior knowledge of familial variant

Physician Insight & Safety Protocols

“Barth syndrome is a complex X-linked mitochondrial disorder that often presents as severe infantile cardiomyopathy. Molecular confirmation through comprehensive TAZ gene sequencing is essential to guide early cardiac surveillance, neutropenia management, and family counseling. This NGS assay offers unparalleled diagnostic accuracy, but results must always be interpreted in the context of echocardiographic findings, neutrophil counts, and clinical history.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Advisory Precautions

Medication Continuity Advisory

Do not discontinue prescribed cardiac, anti-neutropenic, or metabolic therapies without consulting the managing physician. Abrupt cessation may precipitate acute clinical deterioration.

Safety Exclusion Criteria & Emergency Red Flags

  • Active febrile illness or acute infection requiring hospital‑based intervention.
  • Haemodynamic instability (systolic BP <90 mmHg, severe dyspnoea at rest) – seek emergency care before elective sampling.
  • Minors without legal guardian’s informed consent (per UAE Federal Law No. 2 of 2019).

Seek immediate emergency attention if you experience: crushing chest pain, sudden inability to breathe, syncope, or signs of acute heart failure.

Patient FAQ & Clinical Guidance

1. What is Barth syndrome and how does the TAZ gene test diagnose it?

Barth syndrome is an X‑linked mitochondrial disorder caused by TAZ gene mutations, leading to cardiomyopathy, neutropenia, and abnormal 3‑methylglutaconic acid levels. Our NGS test reads the entire TAZ coding sequence and flanking regions, detecting point mutations, small insertions/deletions, and copy‑number variants with >99% sensitivity. This molecular confirmation supports early cardiac surveillance, metabolic management, and family screening.

2. How is the sample collected, and what is the turnaround time?

Sample collection requires a simple blood draw or a dried blood spot on FTA card. A certified phlebotomist visits your home (8 AM‑11 PM) with a cold‑chain kit, or you may visit our Dubai Healthcare City facility. Extracted DNA is also accepted. Results are ready in 3–4 weeks. The laboratory uses Illumina NGS platforms with a custom bioinformatics pipeline compliant with DHA standards.

3. Is this test covered by insurance in the UAE?

Most UAE insurers reimburse clinically indicated genetic testing for Barth syndrome when pre‑authorised. Send your insurance card copy via WhatsApp to +971 54 548 8731, and our team will verify benefits before your appointment. Self‑pay patients benefit from transparent 2800 AED pricing with no hidden fees, including pre‑test genetic counseling.

UAE Regulatory & Data Privacy Adherence

This service adheres to 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 encrypted, access‑controlled, and processed under strict confidentiality. Clinical safety and patient consent follow Federal Decree‑Law No. 4 of 2016 on Medical Liability. The laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139).

Clinical & Logistical Metadata

Test Name TAZ Gene Sequencing (Barth Syndrome) – Next‑Generation Sequencing
Price (AED) 2,800 AED
Turnaround Time 3–4 weeks
Sample Type / Matrix Peripheral whole blood (EDTA) or dried blood spot (FTA card). Home collection available daily 8 AM‑11 PM via VIP Mobile Phlebotomy.
Methodology Used Next‑Generation Sequencing (NGS) on Illumina platform with custom bioinformatics pipeline
ICD-10-CM Code E88.8 (Other specified metabolic disorders)
LOINC Code 83276-0 (TAZ gene full sequencing)
DHA Facility License & Laboratory Address DHA License: 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

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All reports reviewed by DHA-Certified physicians