SPTA1 Gene Spherocytosis Type 3 Genetic Test (NGS) in Dubai, UAE

Executive Summary & Core Metrics

Core Metrics & Service Guarantee

Diagnostic Sensitivity: 99.9% via ISO 9001:2015 accredited molecular genetics laboratory (Cert: INT/EGQ/2509DA/3139).
Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
Clinical Guidance: Complimentary post-test telephonic consultation with a Consultant Medical Geneticist to review results and family implications.
Insurance & Billing: Direct insurance verification and cashless options available via WhatsApp at +971 54 548 8731.

Test Overview & Methodology

The SPTA1 Gene Spherocytosis Type 3 Genetic Test employs clinical-grade next-generation sequencing (NGS) to comprehensively analyze the SPTA1 gene for pathogenic variants associated with hereditary spherocytosis type 3. This advanced molecular diagnostic technique ensures high analytical sensitivity and specificity, enabling precise differentiation between hereditary spherocytosis subtypes and other congenital hemolytic anemias. The test adheres to ACMG/AMP standards for variant classification and is performed in our accredited molecular genetics laboratory facility in Dubai Healthcare City.

Feature	Our NGS Test	Alternative Approaches (Sanger / Targeted Panel)
Analytical Precision	Full gene sequencing covering >99.5% of coding regions; detects single nucleotide variants, indels, and copy number variations.	Limited to pre-defined hotspot regions; may miss novel, private, or deep intronic pathogenic variants.
Methodology	Next-Generation Sequencing (Illumina platform) with rigorous bioinformatics filtering and orthogonal confirmation of clinically significant variants.	Sanger sequencing of targeted exons or multiplex ligation-dependent probe amplification (MLPA) for copy number changes.
Turnaround Time	3–4 Weeks (expedited processing available upon request)	4–6 Weeks for comprehensive analysis; often requires sequential testing stages.

Physician Insight & Safety Protocols

Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403): "The SPTA1 NGS test provides a robust molecular diagnosis for hereditary spherocytosis type 3, enabling precise differentiation from other hemolytic anemias. However, results must always be interpreted in the context of clinical findings, complete blood count parameters, and peripheral blood smear morphology. Genetic counseling is strongly recommended for all patients and at-risk family members. A negative result does not fully exclude other red cell membrane disorders or acquired causes of hemolysis."

Clinical Advisory – Medication Safety

Patients are advised not to discontinue, modify, or initiate any prescribed medication, including folate supplements or immunosuppressive therapy, based solely on genetic test results without explicit consultation with their treating hematologist or primary care physician.

Exclusion Criteria & Emergency Red Flags

Exclusion Criteria: Active hemolytic crisis or blood transfusion within the past 3 months may interfere with NGS accuracy. Buccal swab collection is recommended as an alternative DNA source after physician clearance.
Emergency Red Flags: Sudden worsening of anemia (extreme pallor, fatigue, dyspnea), jaundice, dark-colored urine, or left upper quadrant pain may indicate acute hemolytic crisis requiring immediate emergency medical intervention.
Pre-test genetic counseling and three-generation pedigree analysis are mandatory prior to specimen collection for hereditary spherocytosis evaluation.

Patient FAQ & Clinical Guidance

1. What is the SPTA1 gene test used for, and who should consider it?

The SPTA1 gene test is designed to definitively diagnose hereditary spherocytosis type 3, identify asymptomatic carriers, and guide reproductive and clinical management decisions. It is recommended for individuals with clinical suspicion of hereditary spherocytosis based on family history, persistent hemolytic anemia, splenomegaly, or abnormal red blood cell indices. The test analyzes the complete SPTA1 coding sequence using NGS to identify disease-causing mutations.

2. How is the sample collected, and what preparation is required?

A trained phlebotomist collects a standard peripheral whole blood sample (2-5 mL) via our temperature-controlled home collection service, or you may visit our partner clinic in Dubai Healthcare City. Buccal swab is an alternative for patients with recent transfusions. Pre-test requirements include a completed clinical questionnaire, a genetic counseling session to document a three-generation pedigree, and signed informed consent. No fasting or dietary restrictions are necessary.

3. How long does it take to get results, and what does the report include?

Results are delivered within 3 to 4 weeks through a secure patient portal. The comprehensive molecular report includes variant classification per ACMG 2024 guidelines, correlated ICD-10-CM codes (D58.0, Z13.0, Z31.5), and clinical recommendations. A complimentary post-test telephonic consultation with our Consultant Medical Geneticist is provided to interpret the findings and discuss implications for family cascade screening.

UAE Regulatory & Data Privacy Adherence

Data Privacy & Governance: DNA Labs UAE strictly 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 encrypted, stored on UAE-based servers, and processed under explicit patient consent with the right to access, rectify, or erase personal data per legal frameworks. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.

Clinical & Logistical Metadata

Test Name	SPTA1 Gene Spherocytosis Type 3 Genetic Test
Price (AED)	AED 2,800
Turnaround Time	3 – 4 Weeks
Sample Type / Matrix	Peripheral Whole Blood (3-5 mL EDTA) or Buccal Swab
Methodology Used	Clinical-Grade Next-Generation Sequencing (NGS) with Full Gene Coverage
ICD-10-CM Code	D58.0 (Hereditary Spherocytosis), Z13.0 (Encounter for Hematologic Screening), Z31.5 (Genetic Counseling)
LOINC Code	77608-5 (SPTA1 gene full mutation analysis)
DHA Facility License & Address	DHA Facility License Number: 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE