Who should get tested for SCA5?

Individuals with progressive cerebellar ataxia, family history of SCA5, or autosomal dominant inheritance pattern should test.

Genetics → Ataxia Genetic

Test Price

1,500 AED

✅ Home Collection Available

SCA5 (Spinocerebellar Ataxia Type 5) SPTBN2 Gene Mutation Test in UAE

Executive Summary & Core Metrics

Diagnostic Yield: 99.9% analytical sensitivity and specificity for SPTBN2 coding region variants via PCR and Sanger sequencing.
Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
Post-Test Guidance: Telephonic clinical consultation included for result interpretation and family risk counselling.
Insurance Verification: Direct billing check via WhatsApp at +971 54 548 8731.
Price: 1,500 AED inclusive of collection, analysis, and physician-reviewed report.

Test Overview & Methodology

This targeted molecular assay identifies pathogenic single-nucleotide variants and small insertions or deletions in the SPTBN2 gene, which causes spinocerebellar ataxia type 5 (SCA5), an autosomal dominant neurodegenerative disorder. Genomic DNA extracted from peripheral whole blood undergoes PCR amplification of all coding exons and flanking intronic regions, followed by bidirectional Sanger sequencing. The method achieves greater than 99.9% analytical accuracy for diagnostic and presymptomatic testing in individuals with progressive cerebellar ataxia and a compatible family history.

Feature	Our SCA5 Test (ULAB)	Whole Exome Sequencing
Precision	100% coverage of SPTBN2 coding region	Broad but may miss deep intronic variants
Methodology	PCR + Sanger Sequencing (Gold Standard)	Next‑Generation Sequencing
Turnaround Time	4 working days	4–6 weeks
Price (AED)	1,500	3,000–5,000+

Physician Insight & Safety Protocols

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

"A positive SPTBN2 variant confirms the molecular diagnosis of spinocerebellar ataxia type 5, yet clinical correlation with neurological examination findings and the pedigree remains essential. A negative result does not exclude other hereditary ataxia subtypes; comprehensive evaluation by a neurologist and genetic counsellor is strongly advised. Our telephonic post-test consultation provides empathetic guidance on surveillance, family testing, and reproductive options."

Medication Advisory

⚠️ Do not discontinue or alter prescribed neurological medications without consulting your treating physician. Genetic results inform, but do not replace, ongoing clinical management and therapeutic decisions.

Exclusion Criteria & Emergency Red Flags

Exclusion: Inability to provide informed consent; severe hemodynamic instability; known allergy to venipuncture materials.
Emergency Red Flags: Sudden onset of severe headache, vertigo, diplopia, or loss of consciousness requires immediate emergency care at the nearest hospital.
Precautions: Patients on anticoagulant therapy must notify the phlebotomist prior to blood draw. Paediatric testing requires prior genetic counselling and guardian consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.

Patient FAQ & Clinical Guidance

1. What is the SCA5 genetic test used for?

This test detects pathogenic mutations in the SPTBN2 gene that cause spinocerebellar ataxia type 5 (SCA5), an autosomal dominant neurological disorder. It is used to confirm a clinical diagnosis in symptomatic individuals and to assess presymptomatic risk in adult family members with a known SCA5 pedigree.

2. How is the blood sample collected and handled?

A trained phlebotomist collects 4 mL of venous whole blood into an EDTA tube. The sample is transported under temperature-controlled cold-chain conditions to our ISO‑accredited laboratory. Home collection is available through our VIP Mobile Phlebotomy service from 8 AM to 11 PM daily.

3. Who should consider this genetic test?

Adults presenting with progressive cerebellar ataxia of unknown cause, individuals with a first-degree relative carrying a known SPTBN2 mutation, and those with an autosomal dominant inheritance pattern in the family. Genetic counselling is mandatory before testing minors, and guardian consent must be documented per Federal Decree-Law No. 4 of 2016 on Medical Liability.

4. What does a positive or negative result mean?

A positive result confirms a molecular diagnosis of SCA5 and enables targeted family surveillance and reproductive counselling. A negative result reduces, but does not eliminate, the likelihood of SCA5; other hereditary ataxias may still be present. All results must be interpreted in the context of a full neurological evaluation.

5. How long does it take to receive results?

The standard turnaround time is 4 working days from sample receipt in the laboratory. Reports are delivered electronically and include a physician-reviewed interpretation with clear clinical guidance.

UAE Regulatory & Data Privacy Adherence

DNA Labs UAE operates under DHA Facility License Number 1143 and complies with all applicable federal data protection and health information governance statutes:

Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the lawful collection, processing, and storage of personal genomic and health data.
Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating the security, confidentiality, and electronic transmission of patient health information.
Federal Decree-Law No. 4 of 2016 on Medical Liability – ensuring informed consent protocols, patient safety standards, and professional accountability in diagnostic genetic testing.

All genetic data is encrypted, access-controlled, and retained only for the period required by UAE health regulations. No data is shared with third parties without explicit patient consent.

Clinical & Logistical Metadata

Test Name	SCA5 (Spinocerebellar Ataxia Type 5) SPTBN2 Gene Mutation Test
Price (AED)	1,500
Turnaround Time	4 working days
Sample Type / Matrix	Whole Blood (EDTA) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection
Methodology Used	PCR Amplification and Bidirectional Sanger Sequencing
ICD-10-CM Code	G11.8
LOINC Code	21674-7
DHA Facility License & Laboratory Address	License No. 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE