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Test Price

2,800 AED

✅ Home Collection Available

PPP2R2B Gene Spinocerebellar Ataxia Type 12 (SCA12) Autosomal Dominant Genetic Test in UAE

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM – 11 PM).
  • Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The PPP2R2B gene analysis detects pathogenic variants causing Spinocerebellar Ataxia Type 12 (SCA12), an autosomal dominant neurodegenerative disorder. This NGS-based test provides definitive molecular diagnosis for at-risk individuals and guides clinical management, family planning, and eligibility for targeted therapies.

Feature Our Test (Premium) Closest Alternative
Precision 99.9% analytical sensitivity & specificity (NGS with orthogonal confirmation) ~97% with Sanger-only fragments
Methodology Next-Generation Sequencing (Illumina® platform), full gene coverage Single-gene Sanger sequencing (limited to hotspot)
Turnaround Time 3–4 weeks with expedited reporting 5–7 weeks in standard labs

Physician Insight & Safety Protocols

“A positive PPP2R2B genetic result must be correlated with comprehensive neurological assessment and brain imaging before concluding a diagnosis of SCA12. I strongly advise all patients to involve a clinical geneticist for accurate penetrance estimation and to never interpret raw data without expert counsel.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Advisory: Do Not Modify Medications Without Consultation

Abrupt discontinuation of prescribed therapies such as antiepileptics, baclofen, or levodopa may trigger severe neurological deterioration. Always consult your treating physician before altering any medication regimen.

Exclusion Criteria & Emergency Red Flags

  • Exclusion: Inability to provide informed consent; patient under active chemotherapy within 2 weeks (may affect DNA quality).
  • Red Flags Requiring Emergency Visit: Acute onset of severe ataxia with loss of ambulation, dysphagia, or respiratory distress—proceed to ER immediately regardless of pending genetic results.
  • Pediatric Note: For minors, genetic testing requires mandatory pre-test counseling and legal guardian consent per UAE regulatory framework.

Patient FAQ & Clinical Guidance

1. What exactly does this test detect, and who should consider it?

This NGS test identifies pathogenic variants in the PPP2R2B gene that cause Spinocerebellar Ataxia Type 12, an autosomal dominant disorder typically presenting with progressive cerebellar ataxia and tremor in adulthood. Individuals with a family history of SCA12, unexplained ataxia, or those seeking presymptomatic testing after genetic counseling should consider this analysis.

2. How is the sample collected, and is home service available in UAE?

Sample collection can be performed via a simple blood draw (whole blood in EDTA tube), extracted DNA, or a single drop of blood on a DNA FTA Card. We offer fully licensed VIP mobile phlebotomy and hospital-grade home collection with cold-chain transport across all emirates, ensuring sample integrity from your doorstep to our ISO-certified lab.

3. How reliable are the results and what support is provided afterward?

Our laboratory delivers analytical sensitivity and specificity exceeding 99.9% using dual-platform NGS and confirmatory sequencing, with results interpreted by board-certified clinical geneticists. Every report includes a complimentary telephonic post-consultation to explain findings, discuss implications for family members, and coordinate further neurological follow-up.

UAE Regulatory & Data Privacy Adherence

Healthcare & Data Protection Compliance

This service operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, and Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is encrypted, stored within UAE sovereign boundaries, and handled with strict E-E-A-T and YMYL standards. Facility License: 1143. Corporate Lab: DNA Labs UAE.

Clinical & Logistical Metadata

Test Name PPP2R2B Gene Spinocerebellar Ataxia Type 12 (SCA12) Autosomal Dominant Genetic Test
Price (AED) 2,800
Turnaround Time 3–4 weeks
Sample Type / Matrix Whole blood (EDTA), extracted DNA, or DNA FTA card
Methodology Used Next-Generation Sequencing (NGS) on Illumina® platform with confirmatory Sanger sequencing
ICD-10-CM Code G11.2
LOINC Code 51969-4
DHA Facility License & Laboratory Address License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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