Test Price
2,800 AED✅ Home Collection Available
PSAP Gene (Prosaposin Deficiency) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity achieved through ISO‑certified NGS processing (referral to CAP/ISO accredited lab).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Complimentary telephonic post‑test clinical discussion with a genetic counsellor to interpret results.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731 (we handle pre‑authorisations).
Test Overview & Methodology
The PSAP gene test uses next‑generation sequencing (NGS) to detect disease‑causing mutations responsible for Prosaposin deficiency, a rare lysosomal storage disorder that can lead to severe neurological impairment. Our advanced NGS platform provides comprehensive coverage of the PSAP gene, including coding regions and splice sites.
| Feature | Our Test – NGS | Closest Alternative – Sanger Sequencing |
|---|---|---|
| Precision | Full gene coverage, detects single‑nucleotide variants and indels with 99.9% analytical sensitivity | Targeted regions; may miss deep intronic or large deletions |
| Methodology | Next Generation Sequencing (Illumina platform, ISO validated) | Capillary electrophoresis‑based bidirectional sequencing |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Sample Options | Whole blood, extracted DNA, or one drop blood on FTA card (cold‑chain managed) | Whole blood (EDTA tube) only |
Physician Insight & Safety Protocols
Note from Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403):
“A positive genetic result confirms the molecular diagnosis but must be correlated with clinical symptoms, biochemical assays, and family history. This test provides powerful information, yet it is not a standalone crystal ball. I reassure every patient that our multidisciplinary team will walk you through the meaning and next steps with compassion and precision.”
Medical Advisory
Do not discontinue or adjust any prescribed medication based on this test result without consulting your treating physician.
Exclusion Criteria & Safety Precautions
Exclusion Criteria for Home Collection
- Patient is unable to provide informed consent or lacks a legal guardian (minors require appropriate consent).
- Known active bleeding disorder or anticoagulant therapy (must phone‑screen with our phlebotomist).
- Severe acute illness that could compromise specimen quality; reschedule after recovery.
- Pregnancy is not a contraindication, but genetic counselling is mandatory prior to draw.
ER Red Flags (Seek Immediate Care)
- Sudden loss of consciousness or seizure‑like activity.
- Rapid neurological deterioration (inability to walk or speak).
- Difficulty breathing or swallowing after the sample collection (rare).
Patient FAQ & Clinical Guidance
1. What is Prosaposin deficiency and what does the PSAP gene test detect?
A: This NGS test identifies disease‑causing mutations in the PSAP gene responsible for Prosaposin deficiency, a severe sphingolipid storage disorder. The condition results from deficient saposin proteins and can lead to progressive neurological decline.
2. How is the test performed and what sample is needed?
A: A certified phlebotomist collects a small blood sample, extracted DNA, or one drop blood on an FTA card during a home visit. The sample is transported in a temperature‑controlled cold chain to our accredited laboratory for NGS processing.
3. What do the results mean and how will I receive them?
A: Results indicate presence or absence of pathogenic variants, delivered with a detailed report and optional telephonic genetic counselling support. A “positive” result may clarify a clinical diagnosis; a “negative” does not rule out all genetic forms, and clinical correlation remains essential.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates 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. All genetic data is encrypted, access‑controlled, and processed under strict confidentiality agreements. Clinical testing safety and patient consent adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability.
ISO 9001:2015 Certified (Cert. INT/EGQ/2509DA/3139). Support & WhatsApp: +971 54 548 8731
Clinical & Logistical Metadata
| Test Name | PSAP Gene Sequencing (Prosaposin Deficiency) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or FTA card blood spot |
| Methodology Used | Next Generation Sequencing (NGS) – Illumina platform |
| ICD-10-CM Code | E75.2 |
| LOINC Code | 21667-9 |
| DHA Facility License & Laboratory Address | License 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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