Test Price
2,800 AED✅ Home Collection Available
CASP8 Gene Autoimmune Lymphoproliferative Syndrome Type 2B Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين CASP8 لمتلازمة التكاثر اللمفاوي المناعي الذاتي من النوع 2B في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
التحليل الجيني الدقيق والمعتمد من هيئة الصحة بدبي لتشخيص متلازمة التكاثر اللمفاوي المناعي الذاتي
- 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.
Overview of the CASP8 Gene NGS Test
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. يكشف التحليل عن الطفرات الجينية المرتبطة باعتلال المناعة الذاتية ويوجه العلاج المناعي الدقيق.
| 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 Protocol
"As a DHA-licensed clinician, I emphasise 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 counselling prior to testing is the cornerstone of informed consent, and results should always be disclosed by a trained professional. Never discontinue any prescribed immunosuppressive therapy without explicit guidance from your treating physician."
— Dr. Prabhakar Reddy, DHA License: 61713011
⚠️ Medication Warning
Do not discontinue prescribed medication without consulting your 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 counselling per UAE CDS Law 2026 (Minors & In Utero Testing).
- 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 haematology review.
- ER Red Flag: Rapid splenomegaly or compressive lymphadenopathy compromising airway/organs.
Frequently Asked Questions
What is the CASP8 gene test used for?
This 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.
ما هو استخدام تحليل جين CASP8؟
يحدد هذا التحليل الطفرات الموروثة في جين CASP8 المسببة لمتلازمة التكاثر اللمفاوي المناعي الذاتي من النوع 2B، مما يوجه العلاج ويُمكّن من فحص أفراد العائلة.
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.
ما مدى دقة تقنية التسلسل الجيني (NGS) المستخدمة؟
تصل حساسية ونوعية التحليل إلى 99.9% للطفرات النقطية والحذوفات الصغيرة وتغيرات عدد النسخ، مع تأكيد جميع النتائج الإيجابية بتقنيات تكميلية.
What preparation is required before the blood draw?
No fasting is required; however, a formal genetic counselling 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 counsellor will explain the implications of positive, negative, or variant‑of‑uncertain‑significance results before you consent.
ما هي التحضيرات اللازمة قبل سحب العينة؟
لا يُشترط الصيام، ولكن يجب إجراء جلسة استشارة وراثية ورسم شجرة العائلة والحصول على الموافقة المستنيرة. يُمنع نقل الدم خلال أسبوعين قبل الفحص.
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