Test Price
2,800 AED✅ Home Collection Available
SPTB Gene Sequencing for Neonatal Hemolytic Anemia (Fatal/Near‑Fatal) NGS Test in UAE | 2,800 AED
Executive Summary & Core Metrics
- ✓Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO‑Accredited NGS Processing
- ✓Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Daily 8 AM – 11 PM)
- ✓Clinical Guidance: Telephonic Post‑Test Clinical Guidance in Result Interpretation
- ✓Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
This advanced NGS panel screens the entire SPTB gene for pathogenic variants causing hereditary spherocytosis, a condition that can manifest as severe, life‑threatening hemolytic anemia in neonates. Early diagnosis empowers tailored management and genetic counseling for affected families. The assay utilises next‑generation sequencing with full gene coverage, detecting single nucleotide variants, small insertions/deletions, and copy number variants.
| Feature | Our SPTB NGS Test | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Precision | Full gene coverage, >99.9% sensitivity, detects SNVs, indels, CNVs | Targeted exons only, may miss deep intronic or regulatory variants |
| Method | Next‑Generation Sequencing (NGS) with bioinformatic validation | Sanger sequencing, lower throughput, no CNV analysis |
| Speed | 3–4 weeks with comprehensive report & tele‑interpretation | 6–8 weeks, typically no integrated genetic counselling |
| Regulatory | Full DHA compliance, mandatory pre‑test genetic counselling | May lack standardised post‑test guidance |
Physician Insight & Safety Protocols
“Early molecular diagnosis of SPTB‑related hereditary spherocytosis can be life‑saving for neonates presenting with unexplained hemolytic anemia. This test must always be interpreted alongside the full clinical picture, family history, and hematologic parameters. Timely, informed decision‑making reduces morbidity and supports targeted family counselling.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Mandatory Pre‑Test Genetic Counselling
UAE regulations require a formal genetic counselling session before any hereditary genetic test. A certified genetic counsellor will explain inheritance patterns, possible outcomes, limitations of the test, and the implications of incidental findings. This session ensures informed consent and protects patient autonomy.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria:
- Recent blood transfusion (within 4 weeks) may introduce donor DNA and confound results; postpone testing until after the appropriate interval.
- Active severe sepsis or hemodynamic instability should be stabilised before elective genetic sampling.
Emergency Red Flags:
- If a newborn or infant develops sudden pallor, jaundice, dark urine, rapid breathing, lethargy, or poor feeding, this may indicate a severe hemolytic crisis. Proceed to the nearest Emergency Room immediately.
Patient FAQ & Clinical Guidance
1. What does the SPTB gene test diagnose?
The NGS SPTB test accurately diagnoses hereditary spherocytosis mutations causing severe, potentially fatal neonatal hemolytic anemia.
This genetic analysis identifies pathogenic variants in the SPTB gene that disrupt the red blood cell membrane, leading to spherocytosis and acute hemolysis. The result guides treatment, including transfusion support and splenectomy decisions later in life.
2. Why is genetic counselling mandatory before this test?
UAE law mandates genetic counselling before testing to explain hereditary risks and ensure informed consent.
A certified genetic counsellor will discuss inheritance patterns, possible outcomes, and the emotional impact. This session safeguards your rights and ensures you fully understand the test’s scope.
3. How are results interpreted and what are turnaround times?
Results are available in 3–4 weeks with a detailed report and expert telephonic clinical interpretation.
The final report classifies variants as pathogenic, likely pathogenic, or uncertain significance, with clear clinical recommendations. Our DHA‑licensed specialists offer a complimentary tele‑health session to review findings and next steps with you personally.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection
- Data Privacy: All genetic data is processed and stored 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.
- Medical Liability: Clinical testing safety and patient consent adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
- DHA Compliance: Full Dubai Health Authority licensing and oversight for genetic diagnostic services.
Clinical & Logistical Metadata
| Test Name | SPTB Gene Sequencing for Neonatal Hemolytic Anemia (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full Gene Coverage |
| ICD-10-CM Code | D58.0 (Hereditary spherocytosis) |
| LOINC Code | 79047-4 (Genetic variant analysis by sequencing) |
| 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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