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Test Price

2,800 AED

โœ… Home Collection Available

ATP6AP2 Gene (Parkinsonism with Spasticity, X-Linked) Genetic Test in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

Executive Summary: Comprehensive genetic diagnosis of pathogenic ATP6AP2 gene variants associated with X-linked parkinsonism and spasticity disorder. This targeted NGS assay delivers 99.9% diagnostic sensitivity through ISO 9001:2015 certified processing, supported by temperature-controlled home collection, post-test genetic counseling, and direct insurance verification via WhatsApp +971 54 548 8731.

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS Processing.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
  • Clinical Guidance: Telephonic Post-Test Clinical Guidance with a DHA-licensed Medical Genetics Consultant for result interpretation.
  • Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731 (support available in Arabic and English).

Test Overview & Methodology

This targeted genetic test screens the ATP6AP2 gene for pathogenic variants responsible for a rare X-linked neurological disorder combining parkinsonism and spasticity, enabling precise diagnosis and carrier identification. The assay employs next-generation sequencing (NGS) on an Illumina platform with 100% exon coverage and concurrent copy number variant (CNV) analysis, validated per ISO 9001:2015 standards. Results are interpreted in accordance with ACMG guidelines and correlated with clinical features and family pedigree.

Comparative Analysis: Targeted ATP6AP2 NGS vs. Whole Exome Sequencing

Feature Our ATP6AP2 NGS Test Closest Alternative (Whole Exome Sequencing)
Diagnostic Precision 100% exon coverage & CNV analysis for ATP6AP2; analytical sensitivity >99.9% Multigene analysis; variant classification may require additional filtering
Methodology Targeted NGS on Illumina platform, validated per ISO 9001:2015 Non-targeted exome capture; secondary findings may increase incidental discovery risk
Turnaround Time 3 to 4 Weeks 6โ€“12 Weeks (varies)
Clinical Support Post-test telehealth with a DHA Medical Genetics Consultant included Often outsourced to third-party genetics services

Physician Insight & Safety Protocols

โ€œWith extensive experience in clinical genetics, I recognize how molecular confirmation can transform the diagnostic journey for families affected by X-linked neurological disorders. This test must be interpreted alongside a comprehensive clinical evaluation, neuroimaging, and a detailed three-generation pedigree. A variant of uncertain significance or a negative result does not rule out disease โ€” it merely guides the next steps. I strongly recommend completing pre- and post-test genetic counseling to fully understand the implications for both the patient and at-risk relatives.โ€ โ€” Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Medication & Clinical Advisory

โš  Important: Do not discontinue, adjust, or alter prescribed medications (including levodopa, baclofen, or other antiparkinsonian agents) based solely on genetic test results. Continue all symptomatic treatments until you have a formal consultation with your treating physician.

Genetic findings provide diagnostic clarification but do not replace ongoing clinical management. Patients should maintain their current medication regimen and follow-up with their neurologist for any treatment modifications.

Safety Exclusion Criteria & Emergency Red Flags

  • Exclusion: Individuals unable to provide informed consent or unwilling to complete mandatory pre-test genetic counselling.
  • Exclusion: Patients with untreated severe coagulopathy if blood draw is the only available collection mode (we also accept saliva/extracted DNA).
  • Emergency Red Flag: Sudden worsening of spasticity leading to repeated falls, respiratory difficulty, or inability to swallow โ€” seek immediate emergency care regardless of test result.
  • Emergency Red Flag: New onset of neuropsychiatric symptoms (psychosis, confusion, agitation) that could indicate rapid disease progression or intercurrent illness.

Patient FAQ & Clinical Guidance

1. What exactly does the ATP6AP2 gene test diagnose?

First-line answer: It identifies pathogenic DNA variants in the ATP6AP2 gene causing X-linked parkinsonism with spasticity. This supports a definitive molecular diagnosis when clinical signs are atypical or unclear, and enables carrier detection for at-risk female relatives.

2. How is the sample collected and what is the process?

First-line answer: A simple peripheral blood draw (2โ€“5 mL in EDTA tube) or saliva sample is collected using our VIP mobile phlebotomy service. The specimen is transported via ISO-certified temperature-controlled cold chain to our DNA Labs UAE facility, where DNA extraction and targeted NGS analysis are performed. Results are typically available within 3โ€“4 weeks.

3. Is this test covered by UAE health insurance?

First-line answer: Many UAE health insurers include genetic testing for inherited neurological disorders under their coverage policies. We verify your individual policy directly via WhatsApp at +971 54 548 8731 before scheduling your collection appointment, ensuring full transparency regarding any out-of-pocket costs.

4. What do the results mean for my family members?

First-line answer: Since this condition follows X-linked inheritance, female carriers have a 50% chance of passing the variant to each child. Male children inheriting the variant will typically be affected, while female children inheriting the variant will be carriers. Genetic counseling is strongly recommended for all at-risk family members to discuss cascade testing and family planning options.

5. How do I prepare for the test and what happens after?

First-line answer: No special preparation is required โ€” you can eat and drink normally. A mandatory pre-test genetic counseling session will be scheduled, followed by the collection. After results are available, a post-test telehealth consultation with our Genetics Consultant is provided to explain findings, discuss clinical implications, and guide next steps in collaboration with your neurologist.

UAE Regulatory & Data Privacy Adherence

Regulatory Compliance Framework

This genetic testing service operates under the strict governance of Dubai Healthcare City (DHCC) regulations and the UAE federal healthcare framework. All patient data is handled in full 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 safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds ISO 9001:2015 Certification (INT/EGQ/2509DA/3139) and operates under DHA Facility License Number 1143. All genetic testing is performed with explicit informed consent and includes mandatory pre- and post-test genetic counseling as required by UAE clinical genetics standards.

Clinical & Logistical Metadata

Test Name ATP6AP2 Gene (Parkinsonism with Spasticity, X-Linked) Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3 to 4 Weeks
Sample Type / Matrix Whole Blood (EDTA) or Saliva (Oragene DNA kit)
Methodology Used Targeted Next-Generation Sequencing (NGS) with CNV analysis on Illumina platform
ICD-10-CM Code G21.22 (Secondary parkinsonism due to genetic disorder)
LOINC Code 21663-8 (Genetic analysis for hereditary neurological disorder)
DHA Facility License & Laboratory Address DHA License: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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โœ… DHA Certified โœ… ISO 15189 โœ… HIPAA Compliant

Available in Arabic, English, Hindi & Urdu

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ISMS 27001:2022

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ISO Accredited

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HIPAA

All reports reviewed by DHA-Certified physicians