Test Price
2,800 AEDโ Home Collection Available
EPHX2 Gene Modifier Analysis for Familial Hypercholesterolemia (LDLR Defect) via NGS in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Guaranteed Diagnostic Excellence โ ISO 9001:2015 Accredited NGS Platform
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited Next Generation Sequencing platform with bioinformatic modifier quantitation.
- Premium Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM. Hospital-grade transport with ISO certified cold-chain integrity.
- Clinical Guidance: Complimentary telephonic post-test clinical interpretation by a DHA-licensed physician. Pre-genetic counselling with pedigree chart provided free of charge.
- Insurance Support: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This advanced genetic test uses Next Generation Sequencing to analyze the EPHX2 gene, a critical modifier of LDL receptor function in familial hypercholesterolemia (FH) caused by LDLR mutations. The analysis provides personalized risk stratification beyond standard lipid panels, enabling precision medicine for Emirati and expatriate patients. The EPHX2 gene encodes soluble epoxide hydrolase, an enzyme that modulates inflammation and lipid metabolism; variants can amplify or reduce cardiovascular risk conferred by LDLR mutations, making this assay essential for tailored treatment planning.
Who Should Order This Test
- Cardiologists โ for in-depth lipid disorder phenotyping and tailored statin or intensive therapy decisions.
- General Physicians โ to guide initial screening and referral of suspected familial hypercholesterolemia cases.
- Medical and PhD Researchers โ for studies exploring the role of EPHX2 in cardiovascular risk prediction and novel drug targets.
| Feature | EPHX2 Modifier NGS Test (DNA Labs UAE) | Standard FH Gene Panel |
|---|---|---|
| Genetic Coverage | Whole EPHX2 coding region plus regulatory elements | LDLR, APOB, PCSK9 only |
| Diagnostic Insight | Modifier effect on LDL receptor activity โ predicts severity and drug response | Identifies causative mutations, no modifier analysis |
| Turnaround Time | 3โ4 weeks | 4โ6 weeks (typical) |
| Sequencing Method | NGS with bioinformatic modifier quantitation | Sanger or targeted NGS |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics | DHA Registration ID: 9294403)
โThe EPHX2 modifier test serves as a powerful adjuvant in familial hypercholesterolemia risk stratification, not as a stand-alone diagnostic. Results must be integrated with a full lipid profile, detailed family pedigree, and clinical examination to guide therapy. This analysis is particularly valuable in families with atypical FH presentations or incomplete LDLR penetrance. Clinical decisions should always be tailored to the patientโs overall cardiovascular risk profile, not solely to the genetic variant identified.โ
Clinical Advisory โ Medication Continuity
Do not discontinue prescribed lipid-lowering medication without consulting your physician.
- This genetic test provides modifier risk information and does not replace acute cardiovascular care or routine monitoring.
- Results require interpretation by a qualified genetic counsellor or cardiologist experienced in FH management.
Exclusion Criteria & Safety Guidance
- Exclusion Criteria: Pregnancy, active malignancy under chemotherapy, acute febrile illness, or known bleeding diathesis may require modified sample collection procedures.
- Emergency Red Flags: If you develop sudden chest pain, severe breathlessness, palpitations, or signs of a stroke, proceed to the nearest emergency department immediately. This genetic test does not replace acute cardiovascular evaluation.
Patient FAQ & Clinical Guidance
1. What is the EPHX2 gene modifier test for familial hypercholesterolemia?
The EPHX2 modifier test identifies genetic variants that influence LDL receptor activity, helping clinicians predict familial hypercholesterolemia severity. This advanced Next Generation Sequencing analysis examines the EPHX2 gene, which codes for soluble epoxide hydrolase, an enzyme that modulates inflammation and lipid metabolism. Variants in EPHX2 can amplify or reduce the cardiovascular risk conferred by LDLR mutations, making it essential for personalized treatment planning and risk stratification beyond standard lipid panels.
2. How does the EPHX2 modifier test differ from a standard familial hypercholesterolemia panel?
Unlike standard FH panels that only sequence LDLR, APOB, and PCSK9 genes, the EPHX2 modifier analysis uncovers epigenetic modifiers that influence cholesterol metabolism severity. Traditional panels detect causal mutations but cannot explain why family members with the same mutation show vastly different cholesterol levels or cardiovascular outcomes. Our EPHX2 test fills this gap by quantifying the modifying impact, enabling precise risk stratification and personalized lipid-lowering goals tailored to each patient.
3. What is the turnaround time and cost for this test in the UAE?
The EPHX2 modifier test requires a blood or DNA sample, with results delivered in 3 to 4 weeks at a cost of 2,800 AED. Sample collection can be arranged via our VIP home phlebotomy service using a single blood draw, extracted DNA, or a dried blood spot on an FTA card. The 3โ4 week turnaround includes biological sequencing, bioinformatic modifier analysis, and a comprehensive clinical report endorsed by a DHA-licensed genetic counsellor. Home collection is available daily from 8 AM to 11 PM with temperature-controlled cold-chain transport.
4. Who will interpret my results and what support is provided?
A complimentary telephonic post-test clinical interpretation is provided by a DHA-licensed physician. Additionally, pre-genetic counselling with a detailed pedigree chart is mandatory and offered free of charge prior to sample collection. This ensures you fully understand the implications of the test, the potential outcomes, and how results will guide your treatment plan. Our genetic counsellors work closely with your referring cardiologist or physician to integrate findings into your overall care strategy.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
- Data Protection: All genomic data encrypted and stored in UAE sovereign clouds in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information Governance: Strict adherence to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for all electronic health records and test data.
- Clinical Safety & Patient Consent: All procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring informed consent, patient safety, and clinical accountability throughout the testing process.
- Quality Certification: ISO 9001:2015 Certification (Cert: INT/EGQ/2509DA/3139) โ audited laboratory processes and continuous quality improvement.
Clinical & Logistical Metadata
| Test Name | EPHX2 Gene Modifier Analysis for Familial Hypercholesterolemia (LDLR Defect) |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card). VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next Generation Sequencing (NGS) with Bioinformatic Modifier Quantitation |
| ICD-10-CM Code | E78.01 (Familial Hypercholesterolemia) |
| LOINC Code | 88214-3 (Familial Hypercholesterolemia Genetic Testing Panel) |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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