Test Price
2,800 AED✅ Home Collection Available
PEX7 Gene (Refsum Disease) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين PEX7 لمرض ريفسوم (NGS) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
ملخص تنفيذي
- ضمان الدقة: حساسية تشخيصية بنسبة 99.9% من خلال معالجة معتمدة بمعيار ISO.
- الخدمات اللوجستية المتميزة: خدمة جمع العينات المنزلية بمعايير المستشفيات عبر سلسلة تبريد معتمدة من ISO، وخدمة الفصد المتنقل لكبار الشخصيات.
- الإرشاد السريري: استشارة سريرية هاتفية بعد الفحص لتفسير النتائج.
- التأمين: التحقق المباشر من تغطية التأمين عبر واتساب على الرقم +971 54 548 8731.
Overview
The PEX7 gene test screens for Refsum disease, a rare peroxisomal biogenesis disorder causing phytanic acid accumulation. It is ordered by General Physicians, Clinical Geneticists, and Neurologists when a patient presents with retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and anosmia. This NGS-based assay provides comprehensive coding region coverage with rapid TAT.
| Feature | Our Test (PEX7 NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity; full gene sequencing with CNV detection | Limited to known mutations; may miss deep intronic variants |
| Methodology | Next-Generation Sequencing (Illumina) with confirmation by Sanger | Sanger sequencing of individual exons |
| Turnaround Time | 3‑4 weeks | 4‑6 weeks |
Physician Insight & Safety Protocol
“A positive PEX7 result must be correlated with clinical findings and biochemical tests (e.g., plasma phytanic acid). This test is a powerful diagnostic tool but is not a substitute for thorough clinical evaluation. Management should involve a multidisciplinary team including neurology and ophthalmology.” – Dr. PRABHAKAR REDDY, DHA License: 61713011
⚠ Medication Warning:
Do not discontinue any prescribed medication without consulting your doctor. Some medications may alter test results; always inform your physician about all medications, supplements, and herbal remedies before testing.
Exclusion Criteria & Emergency Red Flags
- Acute illness or febrile state within 48 hours before sample collection.
- Recent blood transfusion (within 2 weeks) – may dilute donor DNA.
- Inadequate sample (hemolyzed, clotted, or insufficient volume).
- Seek immediate medical attention if the patient experiences sudden vision loss, severe muscle weakness, or difficulty breathing – symptoms of rapidly progressive Refsum disease that require emergency care, not genetic testing alone.
Patient FAQ & Clinical Guidance
What is the PEX7 gene test and why is it done?
The PEX7 gene test detects mutations causing Refsum disease, a condition where the body cannot break down phytanic acid, leading to eye, nerve, and kidney damage. (Direct Snippet: It is ordered when a patient shows signs like night blindness, loss of smell, and unsteady gait, enabling early dietary management to prevent irreversible damage.)
ما هو اختبار جين PEX7 ولماذا يُجرى؟
يكشف اختبار جين PEX7 عن الطفرات المسببة لمرض ريفسوم، حيث لا يستطيع الجسم تحطيم حمض الفيتانيك، مما يضر بالأعصاب والعينين والكليتين. (يُطلب عند ظهور أعراض مثل ضعف الرؤية الليلية وفقدان الشم وعدم التوازن، مما يسمح ببدء العلاج الغذائي المبكر لمنع الضرر الدائم.)
How should I prepare for the PEX7 NGS test?
No fasting is required; however, a pre‑test genetic counselling session is mandatory to draw a pedigree chart and obtain clinical history. (Direct Snippet: Provide a detailed list of all current medications, supplements, and any prior relevant results to the genetic counsellor before sample collection.)
كيف أستعد لاختبار PEX7 NGS؟
لا يشترط الصيام؛ لكن جلسة استشارة وراثية قبل الفحص إلزامية لرسم شجرة العائلة وتدوين التاريخ الطبي. (قدّم قائمة مفصلة بجميع الأدوية والمكملات الحالية إلى المستشار الوراثي قبل جمع العينة.)
What do the results mean and what are the next steps?
A positive result indicates a disease‑causing mutation in the PEX7 gene, which, combined with elevated phytanic acid levels, confirms Refsum disease. (Direct Snippet: Immediately consult a metabolic specialist and start a low‑phytanic‑acid diet under medical supervision to manage symptoms and prevent progression.)
UAE Regulatory Compliance & Accreditation
- Licensed Facility: MOHAP License No. 9834453.
- ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
- Compliant with Federal Decree‑Law No. 41 of 2024 (Art. 87), CDS Law 2026 (Minors), and UAE PDPL.
- All genetic data stored in UAE‑based secure servers under PDPL guidelines.
- Home collection available 8 AM – 11 PM, 7 days a week. WhatsApp: +971 54 548 8731.
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