Test Price
750 AED✅ Home Collection Available
Spinocerebellar Ataxia Type 12 (SCA12) PPP2R2B Gene Mutation Test in Dubai, UAE | Price 750 AED | DNA Labs UAE
Executive Summary & Core Metrics
Gold-Standard Neurogenetic Diagnostics
This advanced genetic assay delivers definitive diagnostic clarity for Spinocerebellar Ataxia Type 12 by detecting pathogenic CAG repeat expansions in the PPP2R2B gene. With 99.9% diagnostic sensitivity, premium logistics, and post-test clinical guidance, it is the preferred choice for patients and physicians in the UAE.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM–11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance by Consultant Medical Genetics.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The SCA12 test is a targeted DNA fragment analysis that identifies the specific CAG trinucleotide repeat expansion in the PPP2R2B gene, confirming a diagnosis of Spinocerebellar Ataxia Type 12 – a progressive adult-onset neurodegenerative disorder. This assay precisely quantifies repeat length, providing the definitive molecular signature required for prognosis, familial risk assessment, and personalized neurogenetic counseling in the UAE.
| Feature | Our SCA12 PPP2R2B Test | Closest Alternative (Broad NGS Panel) |
|---|---|---|
| Diagnostic Precision | Gold-Standard Fragment Analysis & STR Sizing | Short-Read NGS with potential allelic dropout in GC-rich repeats |
| Analytical Method | PCR, Fragment & STR Analysis (Targeted Triplet Repeat Primed PCR) | Whole Exome/Genome Sequencing with limited repeat expansion sensitivity |
| Clinical Turnaround | 10–12 Business Days with Definitive Report | 4–8 Weeks, often requiring orthogonal confirmation |
Physician Insight & Safety Protocols
Consultant Medical Genetics Insight
"As a Consultant Medical Geneticist, I emphasize that precise quantification of the PPP2R2B CAG repeat expansion is essential for accurate diagnosis and family counseling. A positive result informs prognosis and enables cascade testing for at-risk relatives, while a negative result, though reassuring, does not exclude other hereditary ataxias. It is vital that results are interpreted within the full clinical context and accompanied by genetic counseling."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Safety Advisory
This diagnostic test is a genetic assay and does not require any medication adjustments. Patients must continue all prescribed therapies unless specifically directed by their treating physician. No dietary or lifestyle modifications are necessary prior to sample collection.
Exclusion Criteria & Red Flags
- Hemodynamic Instability: Active febrile illness (>38.5°C) or hemodynamic instability precludes elective home phlebotomy.
- Sample Integrity: Specimens that are frozen, hemolyzed, clotted, or exceeding the 72-hour cold-chain window will be rejected.
- Critical ER Signals: If the patient experiences acute-onset dysphagia with aspiration, rapid progression to wheelchair-bound status over <4 weeks, or suicidal ideation upon receiving genetic results, immediate emergency department referral is required.
- Pediatric Consent: Testing for asymptomatic minors strictly adheres to Federal Decree-Law No. 4 of 2016 on Medical Liability – pre-symptomatic prediction is prohibited without ethical board clearance and explicit parental consent, and data handling follows Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
Patient FAQ & Clinical Guidance
1. What exactly does the PPP2R2B gene mutation test for SCA12 reveal about my neurological health?
This specific genetic assay provides a definitive molecular count of the CAG trinucleotide repeat expansion within the PPP2R2B gene to confirm or exclude a diagnosis of autosomal dominant Spinocerebellar Ataxia Type 12, which clinically manifests as progressive tremor and gait imbalance. A result showing an expansion ≥51 repeats establishes the pathogenic basis for your ataxia, while a normal repeat length effectively rules out SCA12 as the cause but does not eliminate the possibility of other genetic or acquired ataxias that may require further investigation.
2. How should I prepare physically and administratively for the home blood collection service?
You must remain well-hydrated, maintain your regular diet unless instructed otherwise, and have the mandatory Genomics Clinical Information Requisition Form (Form 20) dully filled and signed by your referring neurologist before the phlebotomy team arrives. Our DHA-licensed mobile unit utilizes a sterile, closed-system vacutainer to draw 4 mL of whole blood into a Lavender-top EDTA tube, which is immediately placed in a validated refrigerated cold-chain transport system – it is critically important that the specimen is never frozen, as ice crystal formation shears high-molecular-weight DNA and renders it invalid.
3. What are the implications of a positive result for my family members, and how is data privacy maintained under UAE law?
A positive SCA12 result directly implies an autosomal dominant inheritance pattern, meaning each of your siblings and children has a 50% prior probability of carrying the same pathogenic expansion, necessitating formal genetic counseling before any cascade family testing is considered. All genomic data is strictly protected under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). Your confidential sequencing data is anonymized, encrypted, and stored on HIPAA-compliant servers with zero cross-border transfer without explicit consent, and reporting to third parties including insurance providers is legally prohibited without your signed authorization.
UAE Regulatory & Data Privacy Adherence
Regulatory & Accreditation Compliance
This diagnostic service adheres to the following UAE legal frameworks:
- Data Privacy: Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL)
- Health Data & Technology: Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields
- Patient Consent & Medical Liability: Federal Decree-Law No. 4 of 2016 on Medical Liability
- Laboratory Accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) | DHA Facility License: 1143
- Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Clinical & Logistical Metadata
| Test Name | Spinocerebellar Ataxia Type 12 (SCA12) PPP2R2B Gene Mutation Test |
| Price (AED) | 750 AED |
| Turnaround Time | 10–12 Business Days |
| Sample Type / Matrix | Whole Blood (4 mL Lavender-top EDTA tube) – VIP Mobile Phlebotomy Home Collection Available |
| Methodology Used | PCR, Fragment Analysis & STR Sizing (Triplet Repeat Primed PCR) |
| ICD-10-CM Code | G11.2 |
| LOINC Code | 83746-8 |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians