Test Price
2,800 AED✅ Home Collection Available
PSAP Gene Sequencing for Metachromatic Leukodystrophy (Saposin B Deficiency) in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
The PSAP gene NGS test identifies pathogenic variants causing Metachromatic Leukodystrophy due to Saposin B deficiency, a severe neurodegenerative lysosomal storage disorder. This full-gene sequencing analysis delivers a diagnostic sensitivity of 99.9% for point mutations, small indels, and copy number variants across the entire coding region. The service bundle includes a pre-test genetic counselling session, VIP mobile phlebotomy with temperature-controlled cold-chain home collection (daily 8 AM–11 PM), and a post-result teleconsultation with a Consultant Medical Geneticist. Direct insurance verification is available via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
Metachromatic Leukodystrophy (MLD) due to Saposin B deficiency is an autosomal recessive disorder caused by pathogenic variants in the PSAP gene. This test employs next-generation sequencing (NGS) to interrogate all coding exons and flanking intronic regions, providing comprehensive molecular confirmation essential for diagnosis, carrier detection, and family planning. The laboratory follows ISO-accredited protocols with orthogonal validation of all clinically significant variants.
| Feature | Our Test (NGS Full Gene Sequencing) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) with full gene coverage | Sanger sequencing of selected exons only |
| Diagnostic Sensitivity | 99.9% (detects all pathogenic variants including CNVs) | ~95% (misses large deletions/duplications) |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Cost | 2,800 AED | ~2,500 AED (limited clinical utility) |
* Table for illustrative comparison; exact alternative costs may vary.
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I recognize the profound impact that a diagnosis of Metachromatic Leukodystrophy has on affected families. This NGS-based test provides definitive molecular confirmation, but results must always be correlated with clinical presentation and neuroimaging findings. Early genetic diagnosis enables timely access to supportive therapies and informed reproductive counselling.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory
Do not modify or discontinue any current medications or therapies without explicit guidance from your treating physician. This genetic test is intended for elective diagnostic confirmation and is not designed for acute emergency assessment.
Exclusion Criteria & Urgent Red Flags
- Not suitable if: you have received a stem cell transplant or gene therapy within the last 3 months (donor DNA interference may compromise germline variant detection).
- Elective test: this analysis is not intended for acute diagnostic emergencies or immediate clinical decision-making.
- Red Flags requiring immediate emergency attention: sudden loss of developmental milestones, severe hypotonia, or new-onset seizures — seek urgent medical care.
- Always provide a complete clinical history and pedigree chart during pre-test genetic counselling.
Patient FAQ & Clinical Guidance
1. What is the PSAP gene test used for?
The test detects pathogenic PSAP gene variants that cause Metachromatic Leukodystrophy due to Saposin B deficiency. This NGS-based analysis examines the entire coding region to identify point mutations, small indels, and copy number changes. Results are essential for confirming clinical suspicion, guiding family planning, and determining eligibility for disease-modifying therapies.
2. How long does it take to receive results?
Results are ready within 3 to 4 weeks from sample receipt following comprehensive next-generation sequencing analysis. The laboratory workflow includes DNA extraction, library preparation, sequencing, and bioinformatics interpretation. You will receive a detailed report reviewed by a clinical geneticist. For urgent cases, contact our support team to discuss possible expedited processing.
3. Is home sample collection available across the UAE?
Yes, we provide a hospital-grade, cold-chain home collection service across all UAE emirates from 8 AM to 11 PM daily. Our DHA-licensed phlebotomists arrive with temperature-controlled transport kits to maintain DNA integrity. Samples (peripheral whole blood, dried blood spot, or extracted DNA) are processed at our ISO-certified facility. Contact our WhatsApp for same-day booking and insurance verification.
4. What support is available after the test?
A post-result teleconsultation with a Consultant Medical Geneticist is included to explain your report, discuss implications for family members, and coordinate referrals to neurology, metabolic medicine, or genetic counselling services. Our care coordination team remains available via phone and WhatsApp for ongoing support.
UAE Regulatory & Data Privacy Adherence
All genetic testing services at DNA Labs UAE comply 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. Patient genomic data is encrypted, access-controlled, and processed solely for diagnostic purposes. Clinical laboratory operations adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patient safety and informed consent standards throughout the testing pathway. DNA Labs UAE is a DHA-licensed facility (License No. 1143) operating under the regulatory oversight of the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | PSAP Gene Sequencing for Metachromatic Leukodystrophy (Saposin B Deficiency) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood, dried blood spot, or extracted DNA – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM–11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene sequencing with CNV detection |
| ICD-10-CM Code | E75.25 |
| LOINC Code | 94450-8 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians