Test Price
2,800 AED✅ Home Collection Available
SACS Gene Spastic Ataxia Charlevoix-Saguenay Type (ARSACS) Genetic Test in UAE
Trust Executive Summary
This ISO 9001:2015 certified Next-Generation Sequencing test detects pathogenic variants in the SACS gene, responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), with 99.9% diagnostic sensitivity. Our service includes VIP mobile phlebotomy and temperature-controlled cold-chain home collection, direct insurance billing verification via WhatsApp +971 54 548 8731, and telephonic post-test clinical guidance by DHA-licensed professionals. The test is priced at 2,800 AED with a turnaround time of 3–4 weeks from sample receipt.
Test Overview & Methodology
The SACS gene encodes sacsin, a protein essential for normal mitochondrial function and Purkinje cell survival. Pathogenic mutations cause ARSACS, an early-onset neurodegenerative disorder characterized by progressive spasticity, ataxia, and peripheral neuropathy. This NGS-based analysis screens the entire coding region and splice sites for single nucleotide variants, small insertions or deletions, and copy number variations with industry-leading precision.
| Feature | Our Test (DNA Labs UAE) | Sanger Sequencing (Alternative) |
|---|---|---|
| Coverage | Full gene analysis including exons, intron-exon boundaries, and CNV detection | Limited to targeted amplicons; deep intronic or regulatory variants are missed |
| Diagnostic Sensitivity | Greater than 99.9% for ARSACS-related mutations | Approximately 85–90% for point mutations; poor CNV detection capability |
| Turnaround Time | 3–4 weeks | 6–8 weeks for full gene walkthrough |
| Methodology | Next-Generation Sequencing (NGS) with bioinformatic pipeline on Illumina platform | Capillary electrophoresis-based Sanger sequencing |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I understand the profound impact that a diagnosis of hereditary ataxia can have on patients and their families. This NGS-based test delivers high-confidence molecular confirmation of ARSACS, yet results must always be integrated with a complete neurological examination, imaging findings, and a detailed family pedigree. Genetic counselling is strongly recommended before and after testing to ensure informed decision-making.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
⚠️ Medication Advisory
Do not discontinue, adjust, or modify any prescribed medication without direct consultation with your treating physician. Abrupt cessation of certain therapies may lead to clinical deterioration or withdrawal effects. Always seek professional medical advice before making any changes to your medication regimen.
Safety & Exclusion Criteria
- Inability to provide informed consent or absence of a legal guardian for minors; consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Acute febrile illness or untreated active infection at the time of sample collection; reschedule once clinically stable.
- Inadequate sample volume or degraded DNA; a single recollection will be arranged at no additional charge if required.
- Emergency Red Flags: Sudden loss of ambulation, respiratory distress, or new-onset seizures — proceed to the nearest emergency department immediately.
Patient FAQ & Clinical Guidance
1. What is ARSACS and how does this test confirm the diagnosis?
ARSACS (autosomal recessive spastic ataxia of Charlevoix-Saguenay) is an early-onset neurodegenerative disorder caused by pathogenic variants in the SACS gene. This Next-Generation Sequencing test identifies disease-causing mutations across the entire coding region and splice sites, enabling definitive molecular diagnosis. Clinicians integrate these results with MRI findings and neurophysiological studies to establish a complete clinical picture and guide long-term management.
2. Can this test be used for carrier screening or prenatal diagnosis?
Yes, targeted NGS analysis of the SACS gene is appropriate for carrier screening in at-risk couples and for prenatal diagnosis when both parental pathogenic variants are known. Genetic counselling is mandatory under UAE regulations to interpret results accurately and discuss reproductive options in a fully informed context.
3. How does the home collection process work and what are the payment options?
A DHA-certified phlebotomist visits your location daily between 8 AM and 11 PM to collect a blood sample or FTA card specimen, maintaining a strict temperature-controlled cold chain until it reaches our ISO-accredited laboratory. Direct insurance billing verification is available via WhatsApp at +971 54 548 8731, and secure online payment can be processed through our portal. Home collection is available across all emirates of the UAE.
4. What is the turnaround time and how will I receive my results?
The standard turnaround time is 3–4 weeks from the date of sample receipt at our laboratory. Results are delivered electronically via a secure, encrypted patient portal and are also discussed during a telephonic consultation with a DHA-licensed genetic specialist who will explain the clinical implications and recommend next steps.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with the following UAE federal legislations:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — governing the collection, processing, and storage of personal health data with explicit patient consent and data minimization principles.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — regulating the secure handling of electronic health records, telemedicine consultations, and digital diagnostic workflows.
- Federal Decree-Law No. 4 of 2016 on Medical Liability — establishing the legal framework for clinical responsibility, informed consent, and patient safety standards in diagnostic practice.
All patient data is encrypted in transit and at rest. Access is restricted to authorized clinical personnel only, and no genetic information is shared with third parties without explicit written consent as required by law.
Clinical & Logistical Metadata
| Test Name | SACS Gene Spastic Ataxia Charlevoix-Saguenay Type (ARSACS) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Whole Blood (EDTA) or FTA Card Specimen |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina platform with full bioinformatic analysis |
| ICD-10-CM Code | G11.1 (Early-onset cerebellar ataxia) |
| LOINC Code | 21636-6 (Gene mutation analysis) |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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