Test Price
2,800 AED✅ Home Collection Available
PNKP Gene Ataxia-Oculomotor Apraxia Type 4 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity via ISO 9001:2015 accredited next-generation sequencing pipeline for the entire PNKP coding region.
- Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all UAE emirates.
- Post-Test Support: Complimentary telephonic result interpretation by a DHA-licensed consultant medical geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This definitive NGS-based assay analyzes all coding exons and flanking splice-site regions of the PNKP gene to detect pathogenic variants responsible for Ataxia-Oculomotor Apraxia Type 4 (AOA4), an autosomal recessive neurodegenerative disorder characterized by early-onset cerebellar ataxia, oculomotor apraxia, and peripheral neuropathy. The test supports neurologists, medical geneticists, and pediatric specialists in establishing a molecular diagnosis, identifying asymptomatic carriers, and enabling informed family planning.
| Clinical Feature | Our Test (PNKP NGS) | Closest Alternative (Single-Variant PCR) |
|---|---|---|
| Diagnostic Scope | Full coding region ± 20 bp exon/intron boundaries plus CNV detection | Limited to one or a few predefined founder mutations |
| Methodology | Next Generation Sequencing (NGS) with Sanger confirmation of all pathogenic variants | Allele-specific PCR or targeted Sanger sequencing of hotspot exons |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks (often requires sequential reflex testing) |
Physician Insight & Safety Protocols
"This NGS assay delivers molecular confirmation of Ataxia-Oculomotor Apraxia Type 4 by interrogating the entire PNKP gene. Clinical interpretation must be integrated with neurological examination, brain imaging, and a three-generation family pedigree. Results should never be used as a standalone diagnostic tool; correlation by a qualified medical geneticist or neurologist is essential."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Pre-Test Genetic Counseling
Informed consent and pre-test genetic counseling with a DHA-licensed genetic counselor or medical geneticist are mandatory prior to sample collection. Patients and families must be counseled on the implications of positive, negative, and variant of uncertain significance (VUS) results, including potential carrier status and reproductive options.
Exclusion Criteria & Red Flags
- Exclusion: Inability to provide informed consent; severe coagulopathy contraindicating venipuncture; acute febrile illness or active infection requiring immediate medical intervention.
- Emergency Red Flags: Rapid deterioration of ataxia with respiratory compromise, loss of protective airway reflexes, or evolving bulbar symptoms – seek emergency care without delay.
Medication Advisory: Do not alter or discontinue any prescribed therapy without consulting your treating neurologist or primary physician.
Patient FAQ & Clinical Guidance
1. What does the PNKP gene ataxia-oculomotor apraxia type 4 NGS test detect?
The test sequences all coding exons and adjacent splice-site regions of the PNKP gene using next-generation technology to identify disease-causing mutations responsible for AOA4. It also detects copy number variations that may be missed by conventional methods.
2. Is home sample collection available for this genetic test in the UAE?
Yes, our DHA-certified mobile phlebotomy team provides hospital-grade home collection with full temperature-controlled cold-chain logistics. Service is available daily from 8 AM to 11 PM across Dubai, Abu Dhabi, and the Northern Emirates.
3. How long do results take and what support is provided after the report?
Results are delivered within 3 to 4 weeks from sample receipt. Every report includes a complimentary telephonic consultation with a DHA-licensed consultant medical geneticist who will explain the findings, their clinical implications, and next steps.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – All genomic data is anonymized, stored on UAE-based secure servers, and never shared without explicit patient consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – Electronic health records and genetic test data are handled in compliance with UAE health data governance standards.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – Clinical testing safety, informed consent, and pre-/post-test genetic counseling follow the national medical liability framework.
Clinical & Logistical Metadata
| Test Name | PNKP Gene Ataxia-Oculomotor Apraxia Type 4 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Venous Whole Blood (3–5 mL in EDTA tube) |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | G11.3 |
| LOINC Code | 81405-9 |
| 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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