Test Price
2,800 AED✅ Home Collection Available
PSAP Gene Genetic Test for Atypical Gaucher Disease (NGS) in UAE | 2,800 AED | DHA Licensed
Comprehensive Next-Generation Sequencing for PSAP gene mutations causing atypical Gaucher disease (saposin C deficiency).
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited processing with full gene coverage.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Post-test telephonic consultation with a consultant medical geneticist for result interpretation and family cascade screening recommendations.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced genetic test analyzes the entire PSAP gene coding region and splice sites for pathogenic variants linked to atypical Gaucher disease, a rare lysosomal storage disorder caused by saposin C deficiency. Unlike standard glucocerebrosidase enzyme assays that measure indirect metabolic activity, this DNA-based test directly identifies molecular defects at single-nucleotide resolution, enabling precise diagnosis, carrier detection, and informed family planning.
| Feature | Our Test (NGS) | Standard Enzyme Assay |
|---|---|---|
| Precision | Single-nucleotide resolution; detects all mutation types including missense, nonsense, splice-site, and small indels | Indirect activity measurement; may miss atypical variants and cannot distinguish between GBA1 and PSAP defects |
| Method | Next-Generation Sequencing (Illumina platform) with Sanger confirmation of all clinically significant variants | Fluorometric enzyme activity using artificial substrate |
| Speed | 21–28 business days (comprehensive bioinformatics and variant classification) | 1–2 weeks (limited scope, no molecular confirmation) |
| Result Utility | Confirms molecular diagnosis; enables carrier testing and prenatal planning | Suggests enzyme deficiency; cannot identify genetic etiology |
Physician Insight & Safety Protocols
"This test provides critical molecular information for diagnosing atypical Gaucher disease; however, genetic results must always be correlated with clinical findings, enzyme activity levels, and a detailed family pedigree analysis. A positive finding confirms the diagnosis but does not predict disease severity, age of onset, or organ-specific involvement. I strongly recommend post-test genetic counseling to fully understand the implications for you and your family members." — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Medication Advisory
Do not discontinue, alter, or adjust any prescribed therapy—including enzyme replacement therapy or substrate reduction therapy—based solely on genetic test results. Any medication changes must be discussed with your treating physician during a dedicated clinical consultation.
Exclusion Criteria & Emergency Red Flags
- Individuals who have received an allogeneic bone marrow transplant within the past 12 months (donor-derived DNA may confound germline results).
- Active febrile illness or systemic infection—postpone sample collection until full clinical recovery.
- Known bleeding disorder or therapeutic anticoagulation (requires physician clearance prior to venipuncture).
- Red Flags: New or worsening bone pain, unexplained pathologic fractures, rapidly enlarging spleen or liver, or acute neurological deterioration—seek immediate emergency medical evaluation.
Patient FAQ & Clinical Guidance
1. What does a positive PSAP gene test mean for my health?
A positive result indicates you carry a disease-causing variant in the PSAP gene, confirming a molecular diagnosis of atypical Gaucher disease (saposin C deficiency). Clinical symptoms, age of onset, and disease severity vary widely among individuals, even within the same family. This information enables targeted surveillance, family cascade testing, and informed reproductive planning.
2. How should I prepare for the blood draw or DNA sample collection?
No fasting is required. You must complete a mandatory pre-test genetic counselling session to document a detailed family pedigree, relevant clinical history, and obtain informed consent prior to sample collection. Our mobile phlebotomy team will coordinate a convenient appointment at your home or office between 8 AM and 11 PM.
3. Is this test suitable for children or prenatal diagnosis?
Yes. Genetic testing of minors in the UAE requires written informed consent from a legal guardian and compliance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Prenatal testing is available following specialist paediatric genetic counselling and must be performed at an accredited hospital facility.
4. How are my genetic data protected under UAE law?
Your genetic information is classified as sensitive personal data under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). All sequencing data are stored on encrypted, access-restricted servers within the UAE, and results are shared only with you and your referring physician after verified identity authentication.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This diagnostic service fully complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for the collection, processing, and storage of genetic data, and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for digital health records and telemedicine. All clinical procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patient safety, informed consent, and professional accountability. Our laboratory is ISO 9001:2015 certified and operates under DHA Facility License Number 1143.
Clinical & Logistical Metadata
| Test Name | PSAP Gene Sequencing (NGS) for Atypical Gaucher Disease |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 business days (3–4 weeks) |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA) or buccal swab for genomic DNA extraction |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina platform with Sanger confirmation of clinically significant variants |
| ICD-10-CM Code | E75.22 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians