Test Price
2,800 AED✅ Home Collection Available
AP4S1 Gene (SPG52) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل طفرة جين AP4S1 (SPG52) بتقنية التسلسل الجيني NGS في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
الملخص التنفيذي
- ضمان الدقة: حساسية تشخيصية تصل إلى 99.9% عبر معالجة معتمدة بموجب ISO 9001:2015.
- خدمة سحب منزلي بمعايير المستشفيات: فريق تمريض متنقل معتمد ونظام سلسلة تبريد آمن ISO.
- الإرشاد الطبي الهاتفي: استشارة بعد النتيجة لتفسيرها من قبل أطباء متخصصين في الأعصاب والوراثة.
- التأمين: التحقق المباشر من تغطية التأمين عبر واتساب على الرقم 5488731 54 971+.
Test Overview
This test uses next-generation sequencing to analyze the entire coding region of the AP4S1 gene, confirming a diagnosis of SPG52, a rare form of hereditary spastic paraplegia.
يقدم هذا الفحص تشخيصاً جزيئياً دقيقاً لطفرة جين AP4S1 المرتبطة بالشلل التشنجي الوراثي نوع 52 لتوجيه العلاج والمتابعة.
| Feature | Our Test (AP4S1 NGS) | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity for pathogenic variants | ~95% for single‑gene disorders; may miss deep intronic or copy‑number variants |
| Method | Targeted NGS with orthogonal Sanger confirmation | WES (broader genomic screen, lower per‑gene coverage) |
| Turnaround Time | 3‑4 Weeks | 4‑6 Weeks |
Physician Insight & Safety Protocol
Dr. PRABHAKAR REDDY, Consultant Neurologist (DHA License: 61713011): “AP4S1‑targeted NGS provides definitive molecular confirmation of SPG52, but the result must always be correlated with a thorough neurological examination and detailed family history. I advise families that a positive or negative report shapes clinical management and genetic counseling, yet it does not replace ongoing supportive care. It is completely normal to feel anxious before and after testing—our clinical team is here to guide you through every step and interpret what the findings mean for your loved one’s future.”
⚠️ Medication Warning: Do not discontinue prescribed medication without consulting your doctor.
Safety Exclusion Criteria:
- Established alternative diagnosis for spastic paraplegia without clinical indication for AP4S1 testing.
- Inability or refusal to attend a pre‑test genetic counseling session to draw a pedigree.
- Absence of informed consent from the patient or, for minors, from the legal guardian as per UAE law.
Emergency Red Flags – Seek immediate medical attention if:
- Sudden loss of ambulation or acute worsening of spasticity.
- Acute respiratory distress or swallowing difficulty.
- Severe joint contractures causing immobility.
- Any acute neurological deterioration (new confusion, seizures, vision loss).
Patient FAQ & Clinical Guidance
1. What is the AP4S1 gene and SPG52?
The AP4S1 gene encodes a subunit of the adaptor protein complex 4, essential for neuronal development; mutations cause hereditary spastic paraplegia type 52, a progressive lower‑limb stiffness and weakness disorder. SPG52 usually begins in early childhood with gait difficulties and can slowly worsen over time. Confirming the genetic change helps tailor physical therapy, surveillance for associated problems (e.g., intellectual disability), and informs family risk.
يُقدم جين AP4S1 تعليمات لتكوين بروتين بالغ الأهمية لتطور الخلايا العصبية؛ والطفرات فيه تسبب الشلل التشنجي الوراثي نوع 52 الذي يتميز بتصلب وضعف تصاعدي في الساقين.
2. What does a positive result mean for my child’s future?
A positive result confirms the molecular cause of the symptoms, enabling precise prognosis discussions, targeted interventions, and accurate recurrence risk counseling for the family. Early multidisciplinary management—physiotherapy, orthotics, and sometimes antispasticity medications—can improve mobility and quality of life. Regular neurology follow‑up is essential to monitor disease progression.
تؤكد النتيجة الإيجابية السبب الجزيئي للأعراض، مما يتيح مناقشة دقيقة للمآل وتخطيط التدخلات العلاجية وحساب خطورة تكرار الإصابة في العائلة.
3. How should I prepare for this genetic test?
Preparation requires a clinical history review, a dedicated genetic counseling session to construct a three‑generation pedigree, and routine blood draw (no fasting needed) collected at our DHA‑licensed home service. Bring copies of any previous neurological evaluations, MRI reports, and relevant family medical records. Our counselor will explain the test’s scope, possible outcomes, and the implications under UAE genetic testing regulations before collecting a blood sample.
يلزم التحضير مراجعة التاريخ المرضي وجلسة استشارة وراثية لرسم شجرة عائلية وسحب عينة دم روتينية (لا حاجة للصيام) عبر خدمة السحب المنزلي المرخصة من هيئة الصحة بدبي.
Pre‑ Information: Clinical history of the patient undergoing AP4S1 gene testing; a genetic counseling session to construct a pedigree of family members affected with AP4S1‑related spastic paraplegia.
Sample Types Accepted: Whole Blood (EDTA), Extracted DNA, or FTA Card dried blood spot. Collected via our ISO‑certified cold‑chain home phlebotomy service.
Testing Methodology: Next‑Generation Sequencing (NGS) of the full coding region of AP4S1 with orthogonal Sanger confirmation of any detected variant. Compliant with 2026 AI‑assisted molecular diagnostic standards.
ICD‑10‑CM 2026 Primary Codes: G11.4 (Hereditary spastic paraplegia), Z13.71 (Encounter for genetic disease carrier screening), Z84.89 (Family history of other specified conditions).
LOINC: 93437‑5 (AP4S1 gene mutation analysis) – https://loinc.org/93437-5/
Regulatory Compliance:
- Federal Decree‑Law No. 41 of 2024 on Medical Liability, Article 87 – genetic counseling and informed consent requirements.
- UAE Child Rights Law (Wadeema’s Law) and CDS 2026 – mandatory parental/guardian consent for minors.
- UAE PDPL (Federal Decree‑Law No. 45 of 2021) – genomic data protection and confidentiality.
Accreditation: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). DHA Facility License: 9834453. Direct Billing Insurance Verification via WhatsApp: +971545488731.
دعم ثنائي اللغة متاح
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.
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.
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All reports reviewed by DHA-Certified physicians