Test Price
2,800 AED✅ Home Collection Available
PSAP Gene Sequencing for Metachromatic Leukodystrophy (Saposin B Deficiency) in UAE | 2,800 AED | 2026 DHA Guidelines
تحليل جين PSAP للكشف عن حثل المادة البيضاء المتبدل اللون (نقص سابوسين ب) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
الملخص التنفيذي: يستخدم فحص التسلسل الجيني الكامل للجين PSAP بتقنية الجيل التالي (NGS) للكشف عن الطفرات المسببة لحثل المادة البيضاء المتبدل اللون بسبب نقص سابوسين ب، بدقة تشخيصية تصل إلى 99.9% وفق معايير الآيزو 9001:2015. تشمل الخدمة سحب عينات منزلية معتمد بنظام سلسلة التبريد الباردة، وجلسة استشارة وراثية قبل الفحص، واستشارة طبية هاتفية لتفسير النتائج مع طبيب مختص بعد صدور التقرير. التحقق المباشر من تغطية التأمين الصحي عبر واتساب على الرقم +971 54 548 8731.
Overview
The PSAP gene NGS test identifies pathogenic variants causing Metachromatic Leukodystrophy due to Saposin B deficiency, a severe neurodegenerative lysosomal storage disorder. يكشف هذا الفحص الجيني عن الطفرات المسببة لحثل المادة البيضاء المتبدل اللون بسبب نقص سابوسين ب.
| 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 Protocol
“As a neurologist, I understand the profound anxiety families feel when Metachromatic Leukodystrophy is suspected. This genetic test provides definitive molecular confirmation, but must always be interpreted alongside a thorough clinical and neuroimaging evaluation. Early diagnosis can open doors to supportive care and informed family planning.” — Dr. PRABHAKAR REDDY, DHA License 61713011
⚕️ Medication Warning
Do not discontinue any prescribed medication without consulting your treating physician.
Exclusion Criteria & Urgent Red Flags
- Not suitable if: you have received a stem cell transplant or gene therapy in the last 3 months (donor DNA interference may compromise germline variant detection).
- Elective test: this analysis is not intended for acute diagnostic emergencies.
- Red Flags requiring immediate emergency attention: sudden loss of developmental milestones, severe hypotonia, or new-onset seizures.
- Always provide a complete clinical history and pedigree chart during pre-test genetic counselling.
Patient FAQ & Clinical Guidance
Q: What is the PSAP gene test for? ما الغرض من فحص جين PSAP؟
A (SNIPPET): The test detects pathogenic PSAP gene variants causing Metachromatic Leukodystrophy due to Saposin B deficiency for diagnosis.
This NGS-based analysis examines the entire coding region of the PSAP gene to identify point mutations, small indels, and copy number changes. Results are essential for confirming clinical suspicion, guiding family planning, and eligibility for disease-modifying therapies.
Q: How long does it take to get results? كم يستغرق الحصول على النتائج؟
A (SNIPPET): Results are ready within 3 to 4 weeks from sample receipt after comprehensive next-generation sequencing analysis.
The laboratory processes DNA extraction, library preparation, sequencing, and bioinformatics interpretation. You will receive a detailed report reviewed by a clinical geneticist. In urgent cases, contact our support team for possible expedited processing.
Q: Is home sample collection available in Dubai and Abu Dhabi? هل تتوفر خدمة سحب العينات المنزلية في دبي وأبوظبي؟
A (SNIPPET): Yes, we provide a hospital-grade, cold-chain home collection service across all UAE emirates from 8 AM–11 PM.
Our DHA-licensed phlebotomists arrive with temperature-controlled transport kits to maintain DNA integrity. Samples (blood, dried blood spot, or extracted DNA) are processed at our ISO-certified facility. Contact our WhatsApp for same-day booking and insurance verification.
For further clinical interpretation or to schedule a post- teleconsultation, please call +971 54 548 8731.
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التحقق من التغطية التأمينية
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Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
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All reports reviewed by DHA-Certified physicians