Test Price
2,800 AEDโ Home Collection Available
APTX Gene Ataxia-Oculomotor Apraxia Type 1 (AOA1) Genetic Test in UAE | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Executive Summary โ APTX Gene AOA1 NGS Test
- โ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
- โ Premium Logistics: Temperature-Controlled Cold-Chain Home Collection & VIP Mobile Phlebotomy (8 AM โ 11 PM) with ISO-certified specimen handling.
- โ Clinical Guidance: Telephonic post-test genetic counselling for comprehensive result interpretation.
- โ Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
Clinical Scope โ What This Test Reveals
The APTX Gene Ataxia-Oculomotor Apraxia Type 1 (AOA1) Genetic Test is a definitive molecular diagnostic assay that screens for pathogenic variants in the APTX gene (aprataxin) using Next-Generation Sequencing. This test is indicated for individuals presenting with progressive cerebellar ataxia, oculomotor apraxia, and peripheral neuropathy โ hallmark features of AOA1, an autosomal recessive disorder.
The assay provides full coverage of all coding exons and flanking intronic regions of the APTX gene, enabling detection of single-nucleotide variants, small insertions and deletions, and copy-number alterations with 99.9% diagnostic sensitivity.
| Parameter | Our NGS Platform | Conventional Sanger Sequencing |
|---|---|---|
| Diagnostic Sensitivity | 99.9% โ full gene coverage including intron-exon boundaries | ~95% โ limited to known hotspot regions |
| Methodology | NGS with LC-MS/MS-validated library preparation | Chain-termination sequencing โ lower throughput |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks |
Physician Insight & Safety Protocols
Clinical Perspective โ Lina Osama Zaki Quteineh (DHA Registration ID: 9294403), Consultant Medical Genetics:
"A molecular diagnosis of AOA1 provides families with a definitive roadmap for management, anticipatory guidance, and reproductive planning. As a consultant in medical genetics, I emphasize that every result โ whether positive, negative, or a variant of uncertain significance โ must be interpreted within the full clinical context of a thorough neurological examination and a detailed three-generation pedigree. This test is a powerful tool, but its value is fully realized only when paired with expert genetic counselling."
Advisory โ Medication & Clinical Guidance
โ Medication & Clinical Advisory:
Do not discontinue, modify, or initiate any prescribed medication โ including antiepileptics, baclofen, or coenzyme Q10 supplements โ without consulting your treating neurologist or primary care physician. This genetic test provides diagnostic information; it does not replace ongoing clinical management or therapeutic regimens.
Safety Exclusion Criteria & Emergency Red Flags
- โ Exclusion: Individuals under 18 years of age require mandatory parental or legal guardian consent in compliance with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability (Minors). Unaccompanied minors will not be tested.
- โ Exclusion: Patients currently undergoing chemotherapy or radiotherapy must defer sample collection until 4 weeks post-treatment to avoid DNA degradation artefacts.
- โ ER Red Flag: If you experience acute neurological deterioration โ sudden loss of balance, new-onset dysphagia, or respiratory difficulty โ seek immediate emergency care. Do not wait for genetic test results.
- โ ER Red Flag: Any unexplained seizure, loss of consciousness, or severe headache with visual disturbance warrants urgent medical evaluation regardless of pending genetic investigations.
Patient FAQ & Clinical Guidance
1. What exactly does the APTX Gene AOA1 NGS Test detect, and who should consider it?
A: This NGS-based genetic test detects pathogenic single-nucleotide variants, small insertions/deletions, and copy-number variations across the full coding region of the APTX gene to confirm or rule out Ataxia-Oculomotor Apraxia Type 1 (AOA1). Individuals with unexplained progressive cerebellar ataxia, oculomotor apraxia, cognitive decline, or a family history of autosomal recessive ataxia should consider this test.
2. What should I expect during the sample collection process and how should I prepare?
A: A certified phlebotomist collects a standard whole blood sample via our temperature-controlled cold-chain home collection service, or you may provide extracted DNA or a dried blood spot on an FTA card. A pre-test genetic counselling session is mandatory to draw a detailed pedigree chart and review your family history before sample submission. No fasting is required.
3. How long do results take and how will I receive genetic counselling afterward?
A: Results are delivered within 3 to 4 weeks in a comprehensive, DHA-compliant molecular pathology report that includes variant classification per ACMG guidelines. A complimentary telephonic post-test clinical guidance session with a certified genetic counsellor is included to explain your results and discuss implications for family members and future health planning.
4. Will my health insurance cover the cost of this genetic test?
A: Coverage varies by insurer and policy. We offer direct billing verification โ please send a photo of your insurance card via WhatsApp at +971 54 548 8731 to determine eligibility. Self-pay price is 2,800 AED inclusive of all laboratory, logistics, and counselling services.
5. Can this test be performed on a stored or archived DNA sample?
A: Yes. If you have previously extracted genomic DNA of adequate quality (minimum 1 ยตg, OD260/280 ratio 1.8โ2.0), it may be accepted. Alternatively, archival tissue such as FFPE blocks can be used only when accompanied by a pathology report confirming adequate cellularity. Please contact our laboratory team for guidance on specimen suitability.
UAE Regulatory & Data Privacy Adherence
๐ Data Privacy & Regulatory Compliance Framework
DNA Labs UAE operates under the strict oversight of the Dubai Health Authority (DHA Facility License No. 1143) and complies with all applicable UAE federal laws governing genetic data, patient privacy, and health information security.
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ governing the collection, processing, and storage of genetic and health data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ regulating electronic health records and telemedicine consultation.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ ensuring informed consent, patient safety, and clinical accountability.
- ISO 9001:2015 Certified โ Cert: INT/EGQ/2509DA/3139.
Clinical & Logistical Metadata
| Test Name | APTX Gene Ataxia-Oculomotor Apraxia Type 1 (AOA1) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral) โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) with LC-MS/MS-validated library preparation |
| ICD-10-CM Code | G11.3 |
| LOINC Code | 82932-1 |
| DHA Facility License & Address | License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate Lab: DNA Labs UAE |
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