Test Price
2,600 AED✅ Home Collection Available
Ataxia-Telangiectasia Genetic Testing (NGS with Sanger Confirmation) in the UAE | 2600 AED | 2026 DHA-Aligned Guidelines
تحليل جيني لرنح توسع الشعيرات بتقنية التسلسل الجيني من الجيل التالي مع تأكيد سانجر في الإمارات | 2600 درهم | إرشادات معتمدة من هيئة الصحة بدبي 2026
الملخص التنفيذي | Executive Summary
- 99.9% Diagnostic Sensitivity – ISO 9001:2015 accredited laboratory processing with NGS plus confirmatory Sanger sequencing, delivering definitive ATM gene mutation detection.
- Premium Logistics – Paid hospital-grade home collection via ISO-certified cold‑chain courier and VIP mobile phlebotomy (8 AM – 11 PM).
- Clinical Guidance – Complimentary telephonic post‑test result interpretation session with a DHA‑licensed genetic counsellor.
- Insurance Support – Direct billing verification via WhatsApp +971 54 548 8731. We handle the paperwork.
Comprehensive Clinical Overview
The Ataxia‑Telangiectasia (A‑T) genetic test screens the entire ATM gene using Next‑Generation Sequencing (NGS) with Sanger confirmation for identified variants. It is the definitive diagnostic tool for A‑T, an autosomal recessive disorder characterised by progressive cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, and elevated cancer risk. يكشف هذا الاختبار طفرات جين ATM المسؤولة عن رنح توسع الشعيرات، وهو مرض وراثي متنحٍّ يترافق مع ترنح مخيخي وتوسع الشعيرات ونقص مناعي وزيادة خطر الأورام الخبيثة.
| Feature | Our Test (NGS + Sanger) | Standard Single‑Gene Test |
|---|---|---|
| Precision | 99.9% analytical sensitivity; confirmation of all pathogenic/likely pathogenic variants | May miss deep intronic or copy‑number variants; only hotspot regions analysed |
| Methodology | NGS (full gene, 60X coverage) + Sanger bidirectional confirmation | Sanger sequencing of selected exons only |
| Turnaround Time | 40 working days (comprehensive reporting) | Often 8–12 weeks due to sequential screening steps |
| Clinical Relevance | ACMG variant classification, cancer risk sub‑typing, familial segregation ready | Limited interpretability, no systematic sub‑typing |
Physician Insight & Safety Protocol
“As a neurologist, I order the ATM gene test when a child presents with progressive cerebellar ataxia, abnormal eye movements, and recurrent infections. A positive result not only confirms the diagnosis but also guides cancer surveillance and treatment decisions. Please remember that this test must always be correlated with the clinical picture and family history.”
— Dr. PRABHAKAR REDDY, DHA License 61713011, Consultant Neurologist
⚠️ Safety & Exclusion Criteria
- Do not discontinue prescribed medication before providing the blood sample without explicit advice from your physician.
- Infants & children: Test only after clinical evaluation by a paediatric neurologist or clinical geneticist.
- ER Red Flags: Seek emergency care immediately if the patient develops sudden severe ataxia, uncontrolled vomiting, status epilepticus, or signs of severe systemic infection (sepsis). This test is non‑urgent and does not replace acute medical management.
- Consent: A fully completed Whole Exome Sequencing Consent Form (Form 37) is mandatory before sample collection. The form will be provided by our phlebotomist.
- Patients with active severe infections or bone marrow failure should postpone elective testing until medically stable.
Frequently Asked Questions & Clinical Guidance
What is the Ataxia‑Telangiectasia genetic, and how does NGS improve detection?
Direct answer: It analyses the entire ATM gene using NGS followed by Sanger confirmation to identify disease‑causing mutations with >99.9% sensitivity. يقوم هذا التحليل بفحص جين ATM بالكامل باستخدام التسلسل الجيني من الجيل التالي (NGS) متبوعًا بتأكيد سانجر لاكتشاف الطفرات المسببة للمرض بحساسية تفوق 99.9%.
How is the blood sample collected and handled in the UAE?
Direct answer: Two lavender‑top (EDTA) tubes are drawn by our VIP mobile phlebotomy team and shipped refrigerated in ISO‑certified cold chain. يتم سحب عينتيْن من الدم في أنبوبيْ EDTA أرجوانييْن بواسطة فريق الفصد المنزلي VIP، ثم شحنها مبردة ضمن سلسلة تبريد معتمدة من ISO.
What do my results mean, and what are the next steps?
Direct answer: A positive result confirms A‑T and triggers cancer surveillance, immunological monitoring, and family cascade testing; a negative result may require further neurological workup. النتيجة الإيجابية تؤكد تشخيص رنح توسع الشعيرات وتستوجب مراقبة الأورام والمناعة وإجراء فحص تسلسلي للعائلة؛ أما النتيجة السلبية فقد تستدعي مزيدًا من الفحوصات العصبية.
Compliant with UAE Federal Decree‑Law No. 41 of 2024 (Art. 87), CDS Law 2026 for Minors, and UAE PDPL. | Facility License 9834453 | ISO 9001:2015 Cert: INT/EGQ/2509DA/3139 | All genetic counselling adheres to DHA Circular (2026).
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