Test Price
2,800 AED✅ Home Collection Available
NOP56 Gene Spinocerebellar Ataxia Type 36 (SCA36) Autosomal Dominant Genetic Test in UAE
DHA Licensed FacilityExecutive Summary & Core Metrics
Core Metrics at a Glance
- Diagnostic Sensitivity: 99.9% through Next-Generation Sequencing (NGS) with dedicated bioinformatics pipeline for GGCCTG repeat expansion detection.
- Sample Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all Emirates.
- Clinical Guidance: Complimentary telephonic post-test interpretation with a DHA-licensed Consultant Medical Geneticist.
- Insurance Verification: Direct billing confirmation via WhatsApp at +971 54 548 8731.
- Test Price: 2,800 AED inclusive of comprehensive molecular analysis and clinical report.
Test Overview & Methodology
The NOP56 gene test identifies pathogenic GGCCTG hexanucleotide repeat expansions causing spinocerebellar ataxia type 36 (SCA36), an autosomal dominant neurodegenerative disorder characterised by progressive cerebellar ataxia, motor neuron involvement, and variable age of onset. This Next-Generation Sequencing (NGS) assay delivers definitive molecular diagnosis, enabling precise genetic counselling and familial risk stratification. The analysis employs repeat-primed PCR combined with long-read sequencing to accurately quantify expansions exceeding the pathogenic threshold.
| Feature | Our Advanced NGS SCA36 Panel | Conventional Single-Gene Sequencing |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity for repeat expansion detection | May miss large expansions or somatic mosaicism |
| Method | Next-Generation Sequencing with dedicated bioinformatics pipeline | PCR-based fragment analysis or Sanger sequencing |
| Turnaround | 3–4 Weeks from sample receipt | 4–6 Weeks, often requiring reflex testing |
| Clinical Utility | Comprehensive interpretation with DHA-reviewed clinical report | Limited analytical validation without genetic counselling integration |
Physician Insight & Safety Protocols
Clinical Note from Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
"This high-sensitivity genetic assay must always be interpreted alongside a thorough neurological examination and a detailed three-generation family pedigree. A positive result confirms the molecular diagnosis of SCA36, yet it does not predict age of onset, disease severity, or rate of progression. I strongly recommend pre-test and post-test genetic counselling to transform molecular data into actionable life decisions for patients and their at-risk relatives."
Pre-Test Advisory
Important Clinical Considerations
- A positive result does not predict disease severity or progression rate; clinical heterogeneity is well documented.
- Genetic counselling is mandatory before and after testing to address implications for family planning and insurance.
- Results must be correlated with neurological examination findings and neuroimaging data for accurate clinical interpretation.
Exclusion Criteria & Emergency Red Flags
- Recent blood transfusion within 90 days or history of bone marrow transplant – these may compromise DNA purity; notify our scheduling team before collection.
- Inability to provide informed consent: patients with severe cognitive impairment must be accompanied by a legal guardian throughout the counselling process.
- Testing is not performed during acute life-threatening neurological crises; urgent medical stabilisation takes precedence.
- Red Flag Symptoms: Sudden severe headache, respiratory distress, severe dysphagia, rapid loss of independent ambulation, or new-onset incontinence – seek immediate emergency care. Do not delay treatment while awaiting genetic test results.
Patient FAQ & Clinical Guidance
1. What is the NOP56 gene test for SCA36?
The NOP56 genetic test detects abnormal GGCCTG hexanucleotide repeat expansions in the NOP56 gene, confirming spinocerebellar ataxia type 36 with 99.9% diagnostic sensitivity. This targeted analysis clarifies the molecular cause of progressive ataxia when clinical features overlap with other hereditary ataxias, including SCA1, SCA2, SCA3, and SCA6. The test distinguishes SCA36 from phenotypically similar disorders, enabling accurate genetic counselling and family risk assessment.
2. How is the test performed and what is the turnaround time?
A single peripheral blood sample is collected via routine venipuncture into an EDTA tube. The sample undergoes DNA extraction followed by repeat-primed PCR and NGS-based sequencing. Results are delivered within 3 to 4 weeks from sample receipt at the laboratory. Our VIP mobile phlebotomy team ensures proper cold-chain handling from your location to the ISO 9001:2015 accredited laboratory facility.
3. Will my insurance cover this genetic test in the UAE?
Many UAE health insurance plans now cover genetic testing for hereditary neurological disorders when medically necessary and ordered by a specialist. We verify coverage directly via WhatsApp at +971 54 548 8731 before sample collection. Please have your insurance policy number and referral letter ready for a rapid eligibility check.
4. Does a negative result completely rule out SCA36?
A negative result for the NOP56 pathogenic repeat expansion effectively excludes SCA36 as the molecular diagnosis. However, other hereditary ataxias with overlapping clinical phenotypes remain possible. If clinical suspicion persists, your geneticist may recommend a broader hereditary ataxia panel or whole exome sequencing to investigate alternative genetic aetiologies.
5. Can this test predict disease severity or age of onset?
No. While the test confirms the presence of a pathogenic expansion, it does not predict age of symptom onset, disease severity, or rate of neurological decline. SCA36 shows marked clinical variability even within the same family. Genetic counselling addresses these uncertainties and helps patients make informed decisions about monitoring and lifestyle planning.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
- Data Protection: All genetic data is processed in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information Governance: Adherence to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Medical Liability & Consent: Patient safety protocols and informed consent processes follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Quality Certification: All laboratory processes operate under ISO 9001:2015 certified protocols (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | NOP56 Gene Spinocerebellar Ataxia Type 36 (SCA36) Autosomal Dominant Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube) |
| Methodology Used | Next-Generation Sequencing (NGS) with repeat-primed PCR and long-read sequencing for GGCCTG expansion detection |
| ICD-10-CM Code | G11.2 |
| LOINC Code | 81317-5 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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