Test Price
2,800 AED✅ Home Collection Available
CASP8 Gene Autoimmune Lymphoproliferative Syndrome Type 2B Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS and bioinformatics pipeline.
- Premium Logistics: Hospital-grade home collection with ISO-certified cold-chain transport and VIP mobile phlebotomy (8 AM – 11 PM).
- Clinical Guidance: Complimentary telephonic post-test interpretation with a DHA-licensed genetic counsellor.
- Direct Insurance Billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This advanced NGS-based test sequences the entire coding region of the CASP8 gene to diagnose autoimmune lymphoproliferative syndrome type 2B (ALPS‑2B). It differentiates germline pathogenic variants from somatic mutations, providing a definitive molecular diagnosis for patients with unexplained lymphoproliferation, autoimmune cytopenias, or a family history of ALPS.
| Parameter | Our Test (CASP8 NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | ≥99.9% analytical sensitivity & specificity; detects all variant types (SNVs, indels, CNVs) | ~99.5% sensitivity; limited to known hot-spots; may miss large deletions |
| Methodology | Next‑Generation Sequencing (Illumina® platform) with MLPA backup | Bi‑directional Sanger sequencing; no copy‑number analysis |
| Turnaround Time | 3–4 Weeks (expedited 2‑week option available) | 6–8 Weeks (often requires sequential testing) |
| Clinical Utility | Full gene sequencing + clinically curated ACMG interpretation | Limited to a few exons; ambiguous VUS reports |
Physician Insight & Safety Protocols
"As a DHA-licensed genetic consultant, I emphasize that a positive CASP8 variant must be correlated with the full clinical phenotype and family history before a diagnosis of ALPS‑2B is made. Genetic counseling prior to testing is the cornerstone of informed consent, and results should always be disclosed by a trained professional. Never alter any prescribed immunosuppressive therapy without explicit guidance from your treating physician."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License: 9294403
Advisory on Medication Safety
⚠️ Medication Caution
Do not discontinue any prescribed medication without prior consultation with your treating doctor.
Exclusion Criteria & Urgent Referral Flags
- Exclusion: Blood transfusion within the last 2 weeks; active sepsis; inability to provide informed consent.
- Exclusion: Pregnancy is not a contraindication, but requires additional genetic counseling per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ER Red Flag: New onset severe cytopenia (Hb <8 g/dL, platelets <20×10⁹/L) or B‑symptoms (drenching night sweats, fever >38°C, weight loss >10%) necessitates immediate hematology review.
- ER Red Flag: Rapid splenomegaly or compressive lymphadenopathy compromising airway/organs.
Patient FAQ & Clinical Guidance
1. What is the CASP8 gene test used for?
This test identifies inherited mutations in the CASP8 gene causing autoimmune lymphoproliferative syndrome type 2B, guiding therapy and family screening. It is ordered when a patient presents with chronic lymphadenopathy, hepatosplenomegaly, autoimmune cytopenias, or elevated vitamin B12/total lymphocyte counts, especially with a suggestive family history.
2. How accurate is the NGS technology used?
Our NGS assay achieves 99.9% analytical sensitivity and specificity for single nucleotide variants, small insertions/deletions, and copy number changes. All pathogenic/likely pathogenic calls are confirmed by orthogonal methods (Sanger sequencing or MLPA) and interpreted according to ACMG 2026 guidelines, ensuring clinical-grade accuracy comparable to reference laboratories worldwide.
3. What preparation is required before the blood draw?
No fasting is required; however, a formal genetic counseling session and a detailed pedigree chart are mandatory. Patients must provide a complete clinical history, list all medications/supplements, and avoid blood transfusions for at least 2 weeks prior to sample collection. The genetic counselor will explain the implications of positive, negative, or variant‑of‑uncertain‑significance results before you consent.
UAE Regulatory & Data Privacy Adherence
Your data is protected under UAE law.
- All genetic test results and personal information are handled in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health data processing adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | CASP8 Gene Autoimmune Lymphoproliferative Syndrome Type 2B Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (expedited 2-week option available) |
| Sample Type / Matrix | Peripheral whole blood (EDTA) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM – 11 PM) |
| Methodology Used | Next‑Generation Sequencing (NGS) on Illumina® platform with MLPA backup for copy number variation detection |
| ICD-10-CM Code | D89.82 (Autoimmune lymphoproliferative syndrome [ALPS]), Z13.5 (Encounter for screening for genetic disorder) |
| LOINC Code | 88151-2 (CASP8 gene mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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