EPB42 Gene Spherocytosis Type 5 Genetic Test in UAE | 2800 AED | NGS Sequencing

Executive Summary & Core Metrics

Core Metrics & Service Highlights

Diagnostic Confidence: 99.9% analytical sensitivity and specificity via ISO-accredited NGS processing. Premium Logistics: Temperature-controlled cold-chain home collection with VIP mobile phlebotomy available daily from 8 AM to 11 PM. Clinical Guidance: Post-test telephone consultation for result interpretation. Insurance: Direct coverage verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The EPB42 gene test analyzes mutations causing Hereditary Spherocytosis type 5, an autosomal recessive disorder affecting red blood cell membrane stability. This test uses next-generation sequencing (NGS) to provide definitive molecular diagnosis, enabling accurate family risk assessment and informed clinical management.

Feature	Our NGS-Based Test	Traditional Osmotic Fragility Test
Precision	99.9% analytical sensitivity and specificity for EPB42 mutations	Indirect screening; false positives and negatives common
Methodology	Next-Generation Sequencing (NGS) with full gene coverage	Sodium chloride osmotic lysis assay
Speed	3–4 weeks definitive genetic diagnosis	24–48 hours, but requires confirmatory genetic testing

Physician Insight & Safety Protocols

“As a Consultant Medical Genetics, I emphasize that this NGS-based test offers unparalleled precision in diagnosing EPB42-related hereditary spherocytosis. However, clinical correlation with complete blood count, reticulocyte count, and family pedigree remains essential. A negative result does not rule out other genetic forms of spherocytosis or acquired hemolytic anemias. Genetic counselling before and after testing is mandatory for comprehensive patient care.”

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

Important Clinical Advisory

Medication & Treatment Advisory

Do not alter, discontinue, or adjust any prescribed medication, including folate supplementation or immunosuppressive therapy, without direct consultation with your treating hematologist or primary care physician. This genetic diagnostic test provides molecular information only and does not constitute therapeutic guidance.

Exclusion Criteria & Emergency Red Flags

Patients who have received a blood transfusion within the past 2 weeks may have compromised DNA quality; defer testing for 14 days post-transfusion.
Neonates under 28 days require specialized collection protocols and parental consent; contact the laboratory prior to scheduling.
A pre-test genetic counselling session with a completed pedigree chart and signed informed consent is mandatory; the test cannot be initiated without these documents.
Emergency Red Flags: Sudden onset severe anemia, jaundice, abdominal pain, or fever may indicate an acute hemolytic crisis. Seek immediate emergency medical care.

Patient FAQ & Clinical Guidance

1. What is the EPB42 gene and how does it cause hereditary spherocytosis type 5?

The EPB42 gene encodes protein 4.2, which is essential for red blood cell membrane stability. Mutations in this gene cause hereditary spherocytosis type 5 through defective cytoskeletal anchoring, leading to loss of membrane surface area and premature red cell destruction in the spleen.

2. Who should consider this EPB42 genetic test?

Individuals with unexplained hemolytic anemia, a family history of hereditary spherocytosis, or those planning family expansion should consider this targeted genetic assessment. The test is also appropriate for patients with persistent jaundice, splenomegaly, or gallstones at a young age where red cell membrane disorders are suspected.

3. What does the 3–4 week turnaround time involve and why is genetic counselling required?

The turnaround includes DNA extraction, NGS library preparation, sequencing, bioinformatic analysis, and expert variant interpretation to ensure clinically actionable results. Genetic counselling is required to discuss the implications of potential findings, including carrier status, inheritance patterns, and reproductive options, before testing proceeds.

UAE Regulatory & Data Privacy Adherence

Regulatory Compliance: This service complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient data handling and privacy safeguards, and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for digital health data security. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. All testing is performed under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) accredited protocols.

Clinical & Logistical Metadata

Test Name	EPB42 Gene Spherocytosis Type 5 Genetic Test (NGS)
Price (AED)	2,800 AED
Turnaround Time	12–15 Business Days (3–4 weeks)
Sample Type / Matrix	Whole Blood (Peripheral) – EDTA Tube (3–5 mL)
Methodology Used	Next-Generation Sequencing (NGS) – Full Gene Coverage
ICD-10-CM Code	D58.0
LOINC Code	33907-5
DHA Facility License & Laboratory Address	DHA License No. 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE