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Test Price

2,800 AED

✅ Home Collection Available

FAT4 Gene Hennekam Lymphangiectasia‑Lymphedema Syndrome Type 2 Genetic Test in UAE – 2,800 AED

Executive Summary & Core Metrics

Executive Summary: This clinical-grade genetic test targets pathogenic variants in the FAT4 gene associated with Hennekam lymphangiectasia‑lymphedema syndrome type 2. The assay delivers >99.9% diagnostic sensitivity through ISO-accredited next-generation sequencing (NGS). Dedicated logistics support includes VIP mobile phlebotomy with temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM. Post-test telephonic clinical guidance is provided for result interpretation and multidisciplinary care coordination. Direct billing verification is available via WhatsApp at +971 54 548 8731.

  • Accuracy Guarantee: >99.9% Diagnostic Sensitivity via ISO Accredited Processing
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Daily 8 AM–11 PM)
  • Clinical Guidance: Telephonic Post‑Test Clinical Guidance for Result Interpretation
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731

Test Overview & Methodology

This advanced Next‑Generation Sequencing (NGS) test analyses the FAT4 gene for pathogenic variants causing Hennekam lymphangiectasia‑lymphedema syndrome type 2, a rare dysmorphology disorder typically managed by paediatricians, neonatologists, and clinical geneticists. The assay is performed on the Illumina platform and targets all coding exons and flanking intronic regions of FAT4. A detailed clinical history and genetic counselling session to construct a pedigree chart of family members affected by FAT4-related Hennekam syndrome is mandatory before sample collection.

Sample Type: Whole Blood, Extracted DNA, or One Drop Blood on FTA Card. No special dietary or medication restrictions; however, recent blood transfusion (within 2 weeks) should be disclosed.

Feature Our NGS Test Closest Alternative (Sanger Sequencing)
Precision >99.9% Sensitivity ~99.0%
Methodology NGS (Illumina Platform) Sanger Sequencing
Turnaround Time 3–4 Weeks 6–8 Weeks

Physician Insight & Safety Protocols

“As a Consultant Medical Genetics specialist, I emphasise that a positive FAT4 variant must be correlated with clinical findings and comprehensive family history. This test provides powerful diagnostic information, but it is not a standalone diagnosis — a multidisciplinary approach with a clinical geneticist, paediatrician, and radiologist is essential for accurate prognosis and management.”

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

Advisory Notice – Medication & Clinical Care

Medication Warning

Do not discontinue prescribed medication without consulting your treating physician. This genetic test does not replace ongoing clinical care or emergency medical attention. Results should always be interpreted within the full clinical context by a qualified healthcare provider.

Exclusion Criteria & Emergency Red Flags

  • Acute illness or infection: Postpone testing until full recovery.
  • Recent blood transfusion (within 2 weeks): May interfere with germline DNA analysis.
  • Known allergy to phlebotomy materials: Inform the phlebotomist prior to collection.
  • Severe respiratory distress or cardiac instability: Seek emergency medical attention; home collection is not indicated.
  • Age < 1 month: Neonatal screening requires specialised NICU collection under direct medical supervision.

Patient FAQ & Clinical Guidance

1. What is the FAT4 gene and how does it relate to Hennekam syndrome type 2?

The FAT4 gene provides instructions for a protein that regulates cell signalling and tissue development during embryogenesis. Specific pathogenic variants in FAT4 disrupt normal lymphatic vessel formation, leading to lymphedema, lymphangiectasia, facial dysmorphism, and often intellectual disability. This genetic test identifies those disease-causing variants to confirm the diagnosis and guide clinical management.

2. How accurate is this NGS test for detecting FAT4 mutations?

Our NGS assay demonstrates >99.9% analytical sensitivity for single nucleotide variants and small insertions or deletions in FAT4 coding regions. The test is validated under ISO 9001:2015 standards for clinical genetic diagnostics and is performed on the Illumina sequencing platform with orthogonal confirmation of reportable variants.

3. What is the process for home sample collection in the UAE?

A DHA‑licensed mobile phlebotomist arrives at your residence between 8 AM and 11 PM with certified temperature‑controlled cold‑chain equipment. A small blood sample (venous whole blood or FTA card) is collected and transported directly to our ISO‑accredited laboratory for immediate NGS processing. This VIP mobile phlebotomy service ensures minimal handling time and maximum sample integrity.

4. How long does it take to receive results, and how are they delivered?

The standard turnaround time is 3 to 4 weeks from sample receipt. Results are delivered via a secure confidential PDF report sent to your registered email and mobile app. A telephonic post‑test consultation is scheduled with a clinical geneticist to explain the findings and discuss next steps.

5. Is genetic counselling required before and after the test?

Yes. Pre‑test genetic counselling is mandatory to construct a detailed pedigree chart, discuss the implications of possible results, and obtain informed consent. Post‑test counselling is provided to explain the report and coordinate specialist referrals when needed. Both sessions are conducted by qualified genetics professionals.

UAE Regulatory & Data Privacy Adherence

Legal & Privacy Framework

This diagnostic service operates in full compliance 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 encrypted, access‑controlled, and handled with maximum confidentiality. Clinical safety and patient consent protocols adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. The laboratory is DHA‑licensed (Facility No. 1143) and operates under ISO 9001:2015 quality management standards.

Clinical & Logistical Metadata

Test Name FAT4 Gene Hennekam Lymphangiectasia‑Lymphedema Syndrome Type 2 Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Whole Blood, Extracted DNA, or FTA Card Blood Spot
Methodology Used Next‑Generation Sequencing (NGS) – Illumina Platform
ICD-10-CM Code Q87.8
LOINC Code 21636-6
DHA Facility License & Laboratory Address DHA License: 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE

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