Test Price
2,800 AED✅ Home Collection Available
ATP7A Gene Spinal Muscular Atrophy, Distal, X-linked DNA Test (NGS) in UAE | 2,800 AED | DHA Licensed | DNA Labs UAE
Executive Summary & Core Metrics
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: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM–11 PM) across all UAE emirates, with ISO Certified transport.
- ✓Clinical Guidance: Complimentary telephonic post-test clinical guidance with a genetic counsellor for result interpretation.
- ✓Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
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.
| 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 Protocols
“This comprehensive NGS assay provides an opportunity to confirm or exclude ATP7A-related motor neuropathy with high resolution. However, genetic results must always be interpreted in conjunction with the full neurological examination and family history. A negative test does not rule out other genetic or acquired mimics; ongoing clinical surveillance remains essential.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Safety Advisory
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.
2. How does full-gene NGS compare to traditional testing methods?
Full-gene NGS covers 100% of the ATP7A coding region and flanking intronic areas, detects copy number variants, and delivers results in 3–4 weeks versus 5–6 weeks for Sanger sequencing. This comprehensive approach reduces the need for additional follow‑up tests.
3. Can this test be used for family planning and carrier screening?
Yes. 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 after genetic counselling.
UAE Regulatory & Data Privacy Adherence
Strict Compliance with UAE Privacy and Health Data Laws
- Personal data processed in full accordance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical testing safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Our laboratory operates under DHA Facility License No. 1143 and maintains ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | ATP7A Gene Distal Spinal Muscular Atrophy, X-linked NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Full gene sequencing & CNV detection |
| ICD-10-CM Code | G12.9 |
| LOINC Code | 82335-1 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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