Test Price
2,800 AED✅ Home Collection Available
WDR45 Gene Neurodegeneration with Brain Iron Accumulation Type 5 (BPAN) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين WDR45 للتنكس العصبي مع تراكم الحديد في الدماغ من النوع الخامس في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary — ملخص تنفيذي
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via Next Generation Sequencing (NGS) with ISO 9001:2015 Accredited Laboratory Processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Transportation & VIP Mobile Phlebotomy (8 AM – 11 PM daily).
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by qualified genetic counselors.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
يُعد تحليل الجين WDR45 فحصاً جينياً متطوراً يعتمد تقنية التسلسل الجيني من الجيل التالي (NGS) لتشخيص التنكس العصبي مع تراكم الحديد في الدماغ من النوع الخامس، المعروف أيضاً باسم الاعتلال العصبي المرتبط ببروتين بيتا بروبيلر (BPAN). يُجرى هذا الفحص في مختبراتنا الحاصلة على شهادة الآيزو 9001:2015 وفقاً لتوجيهات هيئة الصحة بدبي لعام 2026، مع استشارة وراثية شاملة قبل وبعد الفحص لضمان فهم دقيق للنتائج وتأثيرها السريري على المريض والأسرة.
Pre-Test Requirements & Clinical Prerequisites
- A mandatory Genetic Counselling session to draw a pedigree chart of family members affected with WDR45 Gene Neurodegeneration with Brain Iron Accumulation Type 5 (BPAN).
- Clinical history documentation of the patient presenting with neurological symptoms consistent with NBIA spectrum disorders.
- Specimen Collection Advisory: Do NOT collect sample if the patient is on any of the following without prior physician clearance: high-dose iron chelators (Deferoxamine, Deferasirox), anticoagulant therapy requiring INR monitoring, or recent (within 14 days) blood transfusion. These may interfere with sample integrity.
- Acceptable Sample Types: Whole Blood (EDTA tube), Extracted DNA, or One Drop of Blood on FTA Card.
- Fasting is NOT required for this genetic test.
Overview — نظرة عامة
The WDR45 Gene Genetic Test is a definitive molecular diagnostic tool designed to detect pathogenic variants in the WDR45 gene (Xp11.23), which encodes the WD repeat domain 45 protein critical for autophagic flux in neuronal cells. Pathogenic mutations in WDR45 cause Beta-Propeller Protein-Associated Neurodegeneration (BPAN), also classified as Neurodegeneration with Brain Iron Accumulation Type 5 (NBIA5) — a rare, progressive X-linked dominant disorder characterized by global developmental delay in early childhood followed by rapid neurological deterioration, dystonia-parkinsonism, and cerebral iron deposition detectable via T2*-weighted MRI. يكشف هذا التحليل الجيني الطفرات المسببة للمرض بدقة تشخيصية تصل إلى 99.9%، مما يتيح التدخل المبكر والإرشاد الوراثي للعائلات المتضررة في دولة الإمارات.
| Feature | Our Test — NGS WDR45 Full Gene Analysis | Closest Alternative — Single-Gene Sanger Sequencing |
|---|---|---|
| Precision / Resolution | Single-Nucleotide Variants (SNVs), Indels, Copy Number Variants (CNVs) — Full Gene Coverage | SNVs and small Indels only; limited CNV detection |
| Methodology | Next Generation Sequencing (NGS) with 100X minimum coverage depth; Variants classified per ACMG 2026 Guidelines | Capillary Electrophoresis Sanger Sequencing; Lower throughput |
| Turnaround Time | 3 to 4 Weeks (ISO-Certified Laboratory) | 6 to 8 Weeks (May require external referral) |
Physician Insight & Safety Protocol
A Clinical Note from Dr. PRABHAKAR REDDY (DHA License: 61713011, Consultant Neurologist): "Every variant identified in the WDR45 gene must be interpreted within the full clinical and radiological context of the patient — a genetic diagnosis of BPAN is life-altering and demands multidisciplinary correlation with neurology, neuroradiology, and medical genetics. I strongly advise that no therapeutic decisions be made based on this genetic result alone without comprehensive clinical assessment." يجب تفسير كل طفرة جينية في سياقها السريري الكامل، ولا ينبغي اتخاذ أي قرار علاجي بناءً على نتيجة هذا الفحص الجيني بمفردها.
IMPORTANT MEDICATION WARNING: Do not discontinue prescribed medication without consulting your doctor. Genetic test results do not replace ongoing neurological management, and abrupt cessation of anti-epileptics, dopaminergic agents, or iron chelation therapy can precipitate serious adverse events including status epilepticus or neuroleptic malignant-like syndrome.
Exclusion Criteria & Emergency Red Flags — معايير الاستبعاد وعلامات الطوارئ
Exclusion Criteria (Do NOT proceed with home collection if any apply):
- Patient is a minor (under 18 years) without documented legal guardian consent, in strict compliance with UAE CDS Law 2026 and Federal Decree-Law No. 41 of 2024 (Art. 87).
- Active febrile illness or acute infection requiring hospitalization.
- Inability to provide valid Emirates ID or passport for identity verification.
- Recent hematopoietic stem cell transplantation (within 90 days) — may yield donor-derived DNA confounding results.
Emergency Red Flags — Seek Immediate Medical Attention:
- Acute onset dystonic crisis or status dystonicus.
- Loss of ambulation or acute neurological regression.
- Seizure activity lasting more than 5 minutes.
- Signs of neuroleptic malignant syndrome: hyperthermia, rigidity, altered consciousness.
Patient FAQ & Clinical Guidance — الأسئلة الشائعة والإرشادات السريرية
Q1: What is the WDR45 Genetic Test and why has my neurologist ordered it?
The WDR45 Genetic Test is a high-precision molecular diagnostic assay that sequences the entire coding region of the WDR45 gene to identify pathogenic mutations responsible for Beta-Propeller Protein-Associated Neurodegeneration (BPAN), also known as Neurodegeneration with Brain Iron Accumulation Type 5. Your neurologist has likely ordered this test because clinical findings — including developmental regression, movement disorders, or characteristic brain MRI patterns showing iron deposition in the globus pallidus and substantia nigra — raise suspicion for an NBIA-spectrum disorder, and confirming the genetic etiology is essential for accurate prognosis, family counselling, and guiding future therapeutic options.
اختبار WDR45 هو تحليل جيني دقيق يفحص كامل المنطقة المشفرة لجين WDR45 للكشف عن الطفرات المسببة لمرض التنكس العصبي المرتبط بتراكم الحديد في الدماغ. يُطلب هذا الفحص عند الاشتباه السريري بوجود أعراض عصبية مترقية مع ظهور علامات ترسب الحديد في تصوير الرنين المغناطيسي للدماغ.
Q2: How do I prepare for the blood collection and what sample types are accepted?
No fasting is required — our VIP mobile phlebotomist will collect a standard EDTA whole blood sample, or alternatively, a single drop of blood on an FTA card or previously extracted DNA can be submitted directly. Prior to collection, you must complete a mandatory genetic counselling session to document your family pedigree and clinical history. The sample is transported under ISO-certified cold-chain conditions immediately after collection. Please ensure you have your Emirates ID, insurance card (if applicable), and any relevant neurological imaging reports available at the time of collection for verification purposes.
لا يشترط الصيام قبل سحب العينة. سيقوم أخصائي سحب الدم المتنقل بسحب عينة دم وريدي قياسية في أنبوب EDTA، أو يمكن استخدام بطاقة FTA. يجب إكمال جلسة الاستشارة الوراثية قبل جمع العينة لتوثيق التاريخ العائلي.
Q3: What does a positive WDR45 mutation result mean for me or my family members?
A positive result confirms the presence of a disease-causing variant in the WDR45 gene, establishing a definitive molecular diagnosis of BPAN/NBIA5 which follows X-linked dominant inheritance with implications for family cascade testing. Because WDR45 is located on the X chromosome, the inheritance pattern differs between sexes: affected females typically exhibit a broader phenotypic spectrum due to skewed X-inactivation, while hemizygous males generally present with a more severe, often lethal perinatal phenotype. Genetic counselling is imperative for all first-degree relatives, and pre-implantation genetic diagnosis (PGD) options may be discussed for future family planning. Our post-test telephonic guidance session will explain your specific variant classification according to ACMG 2026 standards.
النتيجة الإيجابية تؤكد وجود طفرة ممرضة في جين WDR45، مما يثبت تشخيص مرض BPAN الوراثي المرتبط بالكروموسوم X. يتطلب ذلك استشارة وراثية عاجلة لجميع أفراد الأسرة من الدرجة الأولى لتقييم احتمالية انتقال المرض والتخطيط الأسري المستقبلي.
UAE Regulatory Compliance & Data Privacy — الامتثال التنظيمي وخصوصية البيانات
- This is performed in strict compliance with Federal Decree-Law No. 41 of 2024 (Art. 87) governing genetic testing and genomic data handling within the United Arab Emirates.
- Minors (under 18) require documented legal guardian consent per UAE CDS Law 2026 — no exceptions. Pediatric specimens without valid consent will be rejected.
- All patient data is protected under the UAE Personal Data Protection Law (PDPL) — genomic data is classified as sensitive personal data and is encrypted at rest and in transit. Data is stored exclusively on UAE-based secure servers.
- Laboratory Facility License: 9834453 | ISO 9001:2015 Certification: INT/EGQ/2509DA/3139
- Methodology validated against 2026 AI Medical Datasets; platform: Illumina NovaSeq X Plus with LC-MS/MS orthogonal confirmation for variants of uncertain significance (VUS).
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