Test Price
2,800 AED✅ Home Collection Available
ATP7A Gene Spinal Muscular Atrophy, Distal, X-linked DNA Test (NGS) in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين ATP7A لضمور العضلات الشوكي البعيد المرتبط بالكروموسوم X في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Clinical Confidence & Concierge Care – UAE’s Most Trusted Genetic Pathway
- ✓Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS Laboratory.
- ✓Premium Logistics: Paid Hospital-Grade Home Collection with ISO Certified Cold-Chain Transport & VIP Mobile Phlebotomy.
- ✓Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance for result interpretation with a genetic counsellor.
- ✓Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
ضمان الجودة والامتثال الكامل لقوانين حماية البيانات الصحية في الإمارات العربية المتحدة.
Clinical Overview
This advanced genetic test performs comprehensive sequencing of the entire ATP7A gene using Next-Generation Sequencing (NGS) to detect pathogenic variants responsible for X-linked distal spinal muscular atrophy (SMAX2). It delivers a definitive molecular diagnosis, clarifies carrier status for at-risk female relatives, and informs reproductive options.
يسلسل هذا الاختبار الجيني المتطور جين ATP7A بالكامل باستخدام تقنية التسلسل الجيل التالي لكشف الطفرات المسؤولة عن ضمور العضلات الشوكي البعيد المرتبط بالكروموسوم X.
| Feature | Our NGS Test | Traditional Sanger Sequencing |
|---|---|---|
| Coverage | 100% of ATP7A exons ± flanking intronic regions | Targeted hot-spot mutations only |
| Copy Number Variants | Detected (deletions/duplications) | Not reliably detected |
| Turnaround Time | 3–4 Weeks | 5–6 Weeks |
| Methodology | Illumina NGS + orthogonal confirmation | Sanger sequencing |
Physician Insight & Safety Protocol
"As a clinical neurologist, I recognise the emotional burden a genetic diagnosis carries. This NGS assay provides unparalleled resolution to confirm or exclude ATP7A‑related motor neuropathies, yet it must be integrated with your full neurological examination and family history. A negative report does not negate the importance of continued clinical surveillance, as other genetic and acquired conditions can mimic the phenotype."
— Dr. Prabhakar Reddy, Consultant Neurologist, DHA License: 61713011
⚠️ Medication Safety Warning
Do not discontinue or adjust any prescribed medication (e.g., nusinersen, physiotherapy regimens) without consulting your treating physician. This genetic test is a diagnostic tool, not a replacement for ongoing clinical care.
🩺 Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Pregnancy (consider non-invasive alternatives after genetic counselling); recent blood transfusion (<2 weeks); severe thrombocytopenia.
- Emergency Red Flags: If you experience sudden limb weakness, respiratory distress, or swallowing difficulty, seek immediate medical attention at the nearest emergency department. These symptoms may indicate acute disease progression unrelated to the testing process.
Patient FAQ & Clinical Guidance
1. What does the ATP7A gene test identify in distal spinal muscular atrophy?
This Genetic Test sequences the entire ATP7A gene to detect single nucleotide variants, small insertions/deletions, and copy number changes causing X‑linked distal spinal muscular atrophy, providing definitive molecular confirmation and carrier status.
يكشف هذا الاختبار عن الطفرات الجينية في جين ATP7A المسببة لضمور العضلات الشوكي البعيد المرتبط بالكروموسوم X، مما يؤكد التشخيص الجزيئي وحالة حامل المرض.
2. ما مزايا اختبار تسلسل جين ATP7A الكامل مقارنة بغيره؟
يوفر تسلسل الجين الكامل دقة تفوق 99.9% في كشف الطفرات النادرة، ويشمل تحليل التغيرات في عدد النسخ، مع فترة إنجاز تتراوح بين 3 إلى 4 أسابيع فقط، وهو معتمد من هيئة الصحة بدبي ومطابق لقوانين حماية البيانات.
Full‑gene NGS offers >99.9% sensitivity for rare variants, includes CNV detection, with a turnaround time of 3–4 weeks—fully DHA‑compliant.
3. Can this test be used for family planning and carrier screening?
Absolutely. Because X‑linked distal spinal muscular atrophy follows an X‑linked recessive inheritance, identification of a pathogenic variant enables precise carrier testing for female relatives and opens access to preimplantation genetic testing (PGT‑M) and prenatal diagnosis with genetic counselling.
نعم، يتيح تحديد الطفرة الممرضة إجراء فحص حامل المرض لقريبات المريض وخيارات التشخيص الوراثي قبل الزرع أو قبل الولادة بعد استشارة الوراثة الطبية.
🧬 Pre- Requirements & Logistics
- Sample Type: Blood (3–5 mL in EDTA tube), Extracted DNA, or One Drop of Blood on FTA Card.
- Mandatory: A comprehensive clinical history and a genetic counselling session to construct a detailed pedigree of affected family members.
- Home Collection: Available daily 8 AM – 11 PM across all UAE emirates; VIP phlebotomy with cold‑chain logistics included.
- Turnaround Time: 3 to 4 Weeks from sample receipt at the laboratory.
- Price: 2800 AED (insurance pre‑approval supported via WhatsApp).
Licensed by DHA Facility License: 9834453 | ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) | Testing complies with Federal Decree‑Law No. 41 of 2024, UAE PDPL, and CDS Law 2026 for minors’ data protection.
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
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.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians