Test Price
2,800 AED✅ Home Collection Available
AP4B1 Gene (SPG47) Next-Generation Sequencing (NGS) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين AP4B1 (SPG47) بتقنية التسلسل الجيني المتقدم (NGS) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Clinical Assurance
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
الملخص التنفيذي السريري
- ضمان الدقة: حساسية تشخيصية بنسبة 99.9% عبر معالجة معتمدة من ISO 9001:2015.
- اللوجستيات المتميزة: خدمة جمع العينات في المنزل بمعايير المستشفى مع سلسلة تبريد معتمدة ISO وخدمة الفصد الطبي المتنقل VIP.
- الإرشاد السريري: استشارة هاتفية بعد الفحص لتفسير النتائج.
- التأمين: تحقق مباشر من التغطية التأمينية عبر واتساب +971 54 548 8731.
Test Overview
The AP4B1 NGS test analyzes the entire coding sequence of the AP4B1 gene to identify pathogenic variants causative of Hereditary Spastic Paraplegia Type 47 (SPG47), a rare autosomal recessive neurological disorder. يُحلل اختبار AP4B1 بتقنية NGS التسلسل الكامل لجين AP4B1 لتحديد الطفرات المسببة للشلل التشنجي الوراثي من النوع 47 (SPG47)، وهو اضطراب عصبي وراثي نادر متنحي.
| Feature | Our Test (AP4B1 NGS – Targeted Gene Panel) | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Diagnostic Precision | >99.9% analytical sensitivity and specificity for AP4B1 variants | ~95-98% for the same gene; higher incidental findings risk |
| Methodology | Next-Generation Sequencing with deep coverage of AP4B1 exons ±20 bp | Exome-wide capture, shallower coverage per gene |
| Turnaround Time | 3-4 Weeks | 6-10 Weeks |
| Variant Interpretation | Focused clinical report aligned with ACMG 2026 guidelines | Broad report requiring deep filtering; higher VUS burden |
Physician Insight & Safety Protocol
“As a neurologist, I understand the uncertainty families face when confronting hereditary spastic paraplegia. The AP4B1 NGS test provides a definitive molecular diagnosis that is essential for guiding prognosis, rehabilitation strategies, and informed family planning. However, every genetic result must be correlated with a detailed neurological examination and pedigree analysis—please ensure you bring all relevant medical records to your consultation.”
— Dr. Prabhakar Reddy, DHA License: 61713011
⚕ Medication Warning
Do not discontinue prescribed medication without consulting your doctor. Neurological medications (e.g., baclofen, tizanidine) should never be stopped abruptly; always seek medical guidance before making any changes.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: This test is not intended for emergency diagnosis; patients with active severe infection or hemoglobin <8 g/dL should defer collection until stabilized.
- ER Red Flags: If you experience acute onset of bilateral lower limb paralysis, bowel/bladder incontinence, sudden vision loss, or difficulty breathing, proceed immediately to the nearest emergency department. These symptoms may indicate an acute neurological event requiring urgent intervention, not genetic testing.
Patient FAQ & Clinical Guidance
Q: What exactly does the AP4B1 gene test detect?
Snippet Answer: The AP4B1 gene test identifies mutations causing SPG47, a rare neurological disorder affecting leg stiffness and weakness.
Our targeted NGS assay screens all coding exons and flanking intronic regions of the AP4B1 gene for point mutations, small insertions/deletions, and copy number variations. This genetic confirmation is crucial for accurate diagnosis, distinguishing SPG47 from other spastic paraplegias, and enabling early intervention.
إجابة سريعة: يكشف اختبار جين AP4B1 عن الطفرات المسببة للشلل التشنجي الوراثي من النوع 47 (SPG47)، وهو اضطراب عصبي نادر يؤثر على تصلب الساقين وضعفهما.
Q: How should I prepare for the, and what sample is needed?
Snippet Answer: No fasting is required; simply provide a blood sample, extracted DNA, or a single drop on an FTA card.
A trained phlebotomist will collect 3-5 mL of whole blood in an EDTA tube during our home visit, or you may submit a pre-extracted DNA sample. For remote regions, we accept a single blood drop on an FTA card, which preserves DNA at room temperature. A genetic counselling session is recommended beforehand to document family history.
إجابة سريعة: لا يشترط الصيام؛ كل ما عليك هو تقديم عينة دم أو حمض نووي مستخلص أو قطرة دم واحدة على بطاقة FTA.
Q: Are my genetic data and privacy protected under UAE law?
Snippet Answer: Yes, your genetic data is fully protected under the UAE Personal Data Protection Law and Federal Decree-Law No. 41 of 2024.
Our facility adheres strictly to the UAE PDPL, ensuring that your genetic information is encrypted, stored locally, and never shared without explicit consent. Additionally, ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) mandates rigorous data security protocols. Results are released only to the ordering clinician or the authorized patient with verified identity.
إجابة سريعة: نعم، بياناتك الجينية محمية بالكامل بموجب قانون حماية البيانات الشخصية الإماراتي والمرسوم بقانون اتحادي رقم 41 لسنة 2024.
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