Test Price
2,800 AED✅ Home Collection Available
PDYN Gene Spinocerebellar Ataxia Type 23, Autosomal Dominant Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189 Accredited Next-Generation Sequencing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Genetic Counselling and result interpretation provided by a Consultant Medical Geneticist.
- Insurance Support: Direct Billing Verification via WhatsApp +971 54 548 8731 with pre-approval handling.
Test Overview & Methodology
This molecular diagnostic assay utilises Next-Generation Sequencing (NGS) to detect pathogenic single-nucleotide variants and small insertions/deletions across the entire coding region and flanking intronic boundaries of the PDYN gene. It provides definitive confirmation of autosomal dominant Spinocerebellar Ataxia Type 23 (SCA23) with a diagnostic sensitivity exceeding 99.9%. The test supports pre-symptomatic diagnosis in at-risk family members, informs genetic counselling, and aids in long-term prognosis planning. All analysis is performed under ISO 15189-accredited protocols at the DNA Labs UAE CAP-accredited facility in Dubai Healthcare City.
| Feature | Our Test (NGS) | Closest Alternative (PCR/Sanger) |
|---|---|---|
| Precision | 99.9% sensitivity – full gene sequencing detects all coding and splice-site variants | Limited to known hotspot regions; may miss novel, deep intronic, or mosaic mutations |
| Methodology | Next-Generation Sequencing (NGS) with Copy Number Variant (CNV) analysis and orthogonal confirmation | Sanger sequencing or allele-specific PCR; no CNV detection capability |
| Turnaround Time | 3–4 weeks | 2–4 weeks (often reflexed to NGS if negative, delaying final result) |
| Variant Spectrum | Full coding exons, splice junctions, untranslated regions, and CNV detection across the PDYN gene | Only pre-selected known pathogenic sites; no CNV analysis |
Physician Insight & Safety Protocols
"PDYN-related SCA23 is a rare but clinically distinct autosomal dominant ataxia. The NGS-based test offers definitive molecular confirmation that can distinguish SCA23 from other spinocerebellar ataxia subtypes, which is critical for accurate genetic counselling and family planning. A positive result clarifies the inheritance pattern and recurrence risk, while a negative result does not exclude all hereditary ataxias – comprehensive panel testing may still be warranted. I emphasise that pre-test counselling, including a three-generation pedigree, is mandatory to ensure informed consent and to prepare families for the psychological implications of a genetic diagnosis."
— Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Pre-Test Advisory & Patient Preparation
All patients must complete a pre-test genetic counselling session prior to sample collection. During this session, the genetic counsellor will document a detailed family history, discuss the implications of autosomal dominant inheritance, and address any psychosocial concerns. No dietary restrictions or medication adjustments are necessary. A valid referral from a neurologist or clinical geneticist is required for insurance pre-approval processing.
Exclusion Criteria & Emergency Red Flags
Contraindications and Urgent Referral Indicators
- Exclusion Criteria: Inability to provide informed consent; absence of neurological symptoms without a known pathogenic familial variant identified in a first-degree relative; unwillingness or unavailability for mandatory pre‑test genetic counselling.
- Emergency Red Flags: Acute onset of severe ataxia with rapid loss of ambulation within 48 hours; new-onset cognitive decline or altered mental status; suicidal ideation or severe anxiety triggered by genetic result disclosure; any concurrent acute neurological deterioration requiring immediate hospital-based evaluation.
Patient FAQ & Clinical Guidance
1. What is the purpose of the PDYN Genetic Test?
This NGS-based test detects pathogenic variants in the PDYN gene responsible for autosomal dominant Spinocerebellar Ataxia Type 23. It provides definitive molecular confirmation of the clinical diagnosis with 99.9% sensitivity, enables predictive testing for asymptomatic at-risk relatives, informs recurrence risk for family planning, and helps distinguish SCA23 from other hereditary ataxia syndromes.
2. How should I prepare for this genetic test?
A comprehensive pre-test genetic counselling session is mandatory. During this appointment, a three-generation pedigree chart will be constructed, and the implications of autosomal dominant inheritance will be reviewed in detail. No fasting is required, and you should continue all prescribed medications unless directed otherwise by your neurologist. A peripheral whole blood sample can be collected at your home via our DHA-licensed VIP mobile phlebotomy service between 8 AM and 11 PM daily.
3. Can insurance cover the cost of this test?
Most UAE-based health insurers cover medically indicated neurogenetic testing when supported by a neurologist's referral and clinical documentation. Our dedicated insurance team handles direct billing verification and pre-approval through WhatsApp at +971 54 548 8731. We recommend initiating this process at least 72 hours before the scheduled blood draw to confirm coverage and avoid any out-of-pocket liability.
4. What does a positive test result mean for my family?
A positive result confirms that the ataxia is caused by a pathogenic variant in the PDYN gene and follows an autosomal dominant inheritance pattern. Each child of an affected individual has a 50% risk of inheriting the variant. Predictive testing for asymptomatic adult relatives is available after thorough pre-test counselling. Post-test genetic counselling is provided to discuss cascade testing options and reproductive planning.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and strictly adheres to the UAE Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient genetic data handling, storage, and processing. Additionally, the laboratory complies with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields to ensure secure digital transmission of clinical reports and genomic data. All clinical safety and patient consent protocols are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Genetic test results are released only to the ordering physician and the patient following verified identity confirmation, with encryption standards that meet international health informatics requirements.
Clinical & Logistical Metadata
| Test Name | PDYN Gene Spinocerebellar Ataxia Type 23 (SCA23), Autosomal Dominant – NGS Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available Daily 8 AM – 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) with Copy Number Variant (CNV) Analysis and Orthogonal Sanger Confirmation |
| ICD-10-CM Code | G11.8 (Other hereditary ataxia) |
| LOINC Code | 21636-6 (Molecular genetics test) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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