Test Price
2,800 AEDโ Home Collection Available
SPTBN2 Gene Sequencing (Spinocerebellar Ataxia Type 5, Autosomal Dominant) โ Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- โ99.9% Diagnostic Sensitivity: ISO 9001:2015 accredited laboratory (Cert: INT/EGQ/2509DA/3139) utilizing validated Next-Generation Sequencing (NGS) technology.
- โVIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection: Available daily from 8 AM to 11 PM across all UAE emirates.
- โPost-Test Tele-Guidance: Complimentary telephonic result interpretation by a DHA-licensed consultant medical geneticist.
- โDirect Insurance Billing: Instant verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The SPTBN2 gene sequencing test definitively diagnoses autosomal dominant spinocerebellar ataxia type 5 (SCA5), a progressive neurodegenerative disorder. Using targeted NGS, it identifies pathogenic variants across the entire coding region, offering 99.9% analytical sensitivity and specificity โ surpassing broader panel approaches that may miss deep intronic mutations.
| Parameter | Our SPTBN2 NGS Test | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Precision/Sensitivity | 99.9% for SPTBN2 coding region | ~95% for SPTBN2, often lower coverage depth |
| Methodology | Targeted NGS + Sanger confirmation | Whole-exome capture NGS |
| Turnaround Time | 3โ4 weeks | 5โ8 weeks |
| Clinical Focus | SCA5-only, dedicated SPTBN2 analysis | Incidental findings may complicate interpretation |
| Price (AED) | 2800 | 4500โ6500 |
Physician Insight & Safety Protocols
โThis genetic test provides a definitive molecular diagnosis for SCA5, but it does not replace a comprehensive neurological examination or predict disease progression with absolute certainty. A positive result confirms autosomal dominant inheritance and mandates genetic counselling for at-risk family members. Always integrate the result with clinical and family history to guide management.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.
Important Medical Advisory
Do not discontinue any prescribed medication without consulting your treating physician. This test does not alter existing treatment plans and must be interpreted in a clinical context.
Safety Exclusion & ER Red Flags
- Exclusion Criteria: Inability to provide a viable blood/DNA sample (e.g., recent whole blood transfusion, severe pancytopenia); active febrile illness requiring urgent care.
- Emergency Red Flags (Seek Immediate Medical Attention): Sudden loss of balance with head trauma, acute vision loss, severe dysphagia with choking, or altered consciousness. Do not wait for test results in these scenarios.
Patient FAQ & Clinical Guidance
1. What is the SPTBN2 gene test for spinocerebellar ataxia type 5, and why is it recommended?
This NextโGeneration Sequencing test analyzes the entire SPTBN2 gene to detect mutations causing autosomal dominant spinocerebellar ataxia type 5, a progressive neurological disorder marked by uncoordinated gait and speech difficulties. It is recommended when clinical symptoms or family history suggest a hereditary ataxia, enabling definitive diagnosis, prognostication, and informed reproductive choices.
2. How is the test performed, and what is the turnaround time?
A small blood sample is collected via our VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection service, available daily from 8 AM to 11 PM. The sample is sequenced using NGS, with the final clinical report delivered in 3 to 4 weeks after laboratory receipt. A mandatory pre-test genetic counselling session is conducted to document family pedigree and obtain informed consent.
3. Is genetic counseling mandatory, and what are the legal requirements for minors?
Pre-test genetic counselling is mandatory under Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring fully informed consent and psychosocial support before sample collection. Minors require consent from a legal guardian, and results are disclosed in the presence of a DHA-licensed genetic counsellor to safeguard data privacy per Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
4. What do the results mean for my family?
A positive result confirms autosomal dominant inheritance, meaning each child of an affected individual has a 50% chance of inheriting the mutation. Post-test genetic counselling is provided to discuss implications for family planning and at-risk relatives.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE complies with all applicable UAE federal laws for health data protection and clinical governance, including the 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. Patient data is encrypted, access-controlled, and processed solely for diagnostic purposes with explicit informed consent. Our DHA-licensed facility ensures strict adherence to clinical quality and privacy standards.
Clinical & Logistical Metadata
| Test Name | SPTBN2 Gene Sequencing for Spinocerebellar Ataxia Type 5 |
| Price (AED) | 2800 |
| Turnaround Time | 3โ4 weeks |
| Sample Type / Matrix | Peripheral Whole Blood (3โ5 mL in EDTA tube) |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | G11.2 |
| LOINC Code | 94547-4 |
| DHA Facility License & Laboratory Address | DNA Labs UAE, DHA License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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