Test Price
1,200 AED✅ Home Collection Available
SCA11 (Spinocerebellar Ataxia Type 11) – TTBK2 Gene Mutation Analysis in UAE
Executive Summary & Core Metrics
Executive Summary
This definitive genetic test delivers 99.9% diagnostic sensitivity for SCA11 via ISO 9001:2015 accredited next-generation sequencing, processed in our Dubai-based genomic core facility at DNA Labs UAE. The assay targets the TTBK2 gene coding region to confirm or exclude autosomal dominant spinocerebellar ataxia type 11, enabling precise clinical management and informed family counselling.
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (available daily from 8 AM to 11 PM).
- ✓ Clinical Guidance: Complimentary telephonic post-test result interpretation by a DHA-licensed Consultant Medical Genetics.
- ✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
Spinocerebellar ataxia type 11 (SCA11) is an autosomal dominant neurodegenerative disorder caused by pathogenic variants in the TTBK2 gene. This molecular analysis uses peripheral EDTA whole blood to sequence the complete coding region and intron-exon boundaries, providing definitive genotypic evidence for clinicians managing progressive cerebellar ataxia syndromes. Early molecular diagnosis supports personalised neurology care and enables predictive testing for at-risk relatives within UAE communities.
| Feature | Our SCA11 Test (DHA-Accredited) | Closest Alternative |
|---|---|---|
| Precision | Full coding region sequencing with Sanger confirmation of all variants | Multiplex ligation-dependent probe amplification (misses point mutations) |
| Methodology | PCR + Bidirectional Sanger Sequencing / NGS with orthogonal validation | Repeat-primed PCR only (not validated for SCA11) |
| Speed | 10–12 business days from specimen receipt | 14–21 days (overseas send-out) |
| UAE Regulatory | Full DHA & MOHAP compliance; ISO 9001:2015 certified | May lack local regulatory licence |
Physician Insight & Safety Protocols
“SCA11 typically manifests with slowly progressive gait ataxia, dysarthria, and gaze-evoked nystagmus. A positive TTBK2 variant must be interpreted alongside neurological examination findings and pedigree analysis. Not all sequence alterations are pathogenic; comprehensive variant classification according to ACMG/AMP guidelines is essential. Pre- and post-test genetic counselling is mandatory, particularly when asymptomatic relatives or minors are considered for predictive testing, in strict adherence to UAE medical liability and data protection regulations.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Clinical Advisory
Do not discontinue any prescribed medication without consulting your treating physician. This genetic test is intended for diagnostic confirmation of hereditary ataxia and does not replace acute medical management.
Exclusion Criteria & Emergency Indicators
This test is not indicated for acute ataxia secondary to stroke, intoxication, infection, or metabolic derangement. Seek immediate emergency care if you experience sudden loss of balance, double vision, difficulty swallowing, or altered consciousness—these symptoms require urgent neurological evaluation and are not related to the genetic testing procedure.
Patient FAQ & Clinical Guidance
1. How accurate is the SCA11 TTBK2 gene test in confirming a diagnosis of hereditary ataxia?
Direct Answer: Analysis of the entire TTBK2 coding region using Sanger sequencing achieves greater than 99% analytical sensitivity and specificity for single-nucleotide variants and small indels. This performance exceeds current international benchmark requirements for clinical diagnostic genetics.
A negative result does not exclude other hereditary ataxias; your consultant neurologist may recommend additional gene panels or reflex testing based on clinical presentation and family history.
2. Does health insurance in the UAE cover the cost of TTBK2 mutation analysis?
Direct Answer: Coverage depends on documented family history of spinocerebellar ataxia and a referral from a DHA-licensed neurologist or geneticist. Our patient support team verifies your policy benefits directly via WhatsApp.
We recommend confirming coverage eligibility before sample collection to avoid out-of-pocket expenses.
3. Can this test be performed on children and what are the consent requirements in the UAE?
Direct Answer: Predictive testing of asymptomatic minors requires mandatory pre-test genetic counselling and written guardian consent, in full accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability. A multidisciplinary team evaluation (neurologist, geneticist, psychologist) is mandated before any specimen collection for predictive purposes.
Results are disclosed only through a face-to-face counselling session with the responsible consultant geneticist.
UAE Regulatory & Data Privacy Adherence
- DHA Facility Licence: 1143
- ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139)
- All clinical data processed in compliance with 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.
- Clinical reporting reviewed and authorised by a DHA-licensed Consultant Medical Genetics (Lina Osama Zaki Quteineh, Registration ID: 9294403).
Clinical & Logistical Metadata
| Test Name | SCA11 (Spinocerebellar Ataxia Type 11) – TTBK2 Gene Mutation Analysis |
| Price (AED) | 1,200 AED |
| Turnaround Time | 10–12 business days from specimen receipt |
| Sample Type / Matrix | EDTA Whole Blood (Peripheral) |
| Methodology Used | PCR + Bidirectional Sanger Sequencing / Next-Generation Sequencing (NGS) with Sanger validation |
| ICD-10-CM Code | G11.8 |
| LOINC Code | 93969-6 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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