Test Price
2,800 AED✅ Home Collection Available
PSAP Gene Genetic Test for Atypical Gaucher Disease (NGS) in UAE | 2,800 AED | 2026 DHA Guidelines
تحليل جين PSAP لمرض غوشيه غير النمطي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Comprehensive Next-Generation Sequencing for PSAP gene mutations causing atypical Gaucher disease (saposin C deficiency).
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview
This advanced Genetic Test analyzes the entire PSAP gene for pathogenic variants linked to atypical Gaucher disease, a rare lysosomal storage disorder caused by saposin C deficiency. Unlike standard glucocerebrosidase enzyme assays, this DNA test directly identifies molecular defects, enabling precise diagnosis and family screening.
| Feature | Our Test (NGS) | Standard Enzyme Assay |
|---|---|---|
| Precision | Single-nucleotide resolution, detects all mutation types | Indirect, may miss atypical variants |
| Method | Next-Generation Sequencing (Illumina platform) | Fluorometric enzyme activity |
| Speed | 3–4 weeks (comprehensive) | 1–2 weeks (limited scope) |
Physician Insight & Safety Protocol
"This test is a powerful step toward understanding your genetic health, but it must always be interpreted alongside a comprehensive clinical evaluation and family history by a qualified specialist. A positive result does not always mean disease onset, and a negative result cannot exclude other metabolic conditions. I encourage you to discuss the implications fully with your genetic counsellor." — Dr. Prabhakar Reddy, DHA License: 61713011
⚠️ Do not discontinue any prescribed medication without consulting your doctor.
Exclusion Criteria & Emergency Red Flags
- Individuals who have received an allogeneic bone marrow transplant within 12 months (donor DNA may confound results).
- Active febrile illness or severe infection—postpone sample collection until full recovery.
- Known bleeding disorder or anticoagulant therapy (requires physician clearance for blood draw).
- Red Flags: New onset of severe bone pain, unexplained fractures, acute hepatosplenomegaly, or neurological deterioration—seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What does a positive PSAP gene test mean for my health?
Snippet: A positive result indicates you carry a disease-causing variant in the PSAP gene, but clinical symptoms, age of onset, and severity vary widely; it confirms a molecular diagnosis of atypical Gaucher disease (saposin C deficiency).
الملخص: النتيجة الإيجابية تعني وجود طفرة ممرضة في جين PSAP، لكن الأعراض السريرية وبدايتها وشدتها تختلف اختلافًا كبيرًا؛ وهي تؤكد التشخيص الجزيئي لداء غوشيه غير النمطي (عوز السابوسين C).
2. How should I prepare for the blood draw or DNA sample collection?
Snippet: No fasting is required; however, you must attend a mandatory genetic counselling session to provide a detailed family pedigree and clinical history before collection.
الملخص: لا يشترط الصيام، ولكن يجب حضور جلسة استشارة وراثية إلزامية لتقديم شجرة عائلية مفصلة وتاريخ سريري قبل أخذ العينة.
3. Is this suitable for children or prenatal diagnosis?
Snippet: Yes, under UAE law, genetic testing of minors requires written consent from a legal guardian and compliance with CDS Law 2026, alongside specialist paediatric genetic counselling.
الملخص: نعم، وفقًا لقانون دولة الإمارات، يتطلب فحص القاصرين موافقة خطية من ولي الأمر والامتثال لقانون CDS 2026، إلى جانب استشارة وراثية متخصصة للأطفال.
Regulatory Compliance: This diagnostic service adheres to Federal Decree-Law No. 41 of 2024 (Art. 87), UAE PDPL for genetic data privacy, and CDS Law 2026 regarding minors. Our facility is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and DHA-licensed.
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians