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Test Price

2,800 AED

✅ Home Collection Available

ACTN1 Gene Bleeding Disorder, Platelet-Type 15 Genetic Test in UAE – 2800 AED – DHA Licensed

Executive Summary & Core Metrics

Executive Summary:

DNA Labs UAE offers a comprehensive Next-Generation Sequencing (NGS) test for the ACTN1 gene, targeting pathogenic variants responsible for Platelet-Type 15 Bleeding Disorder – an inherited platelet function defect. This assay is processed under ISO 9001:2015 accredited protocols, delivering diagnostic sensitivity exceeding 99.9%. Clinical reporting includes telephonic post-test guidance for result interpretation. Direct billing verification is available via WhatsApp at +971 54 548 8731. VIP mobile phlebotomy and temperature-controlled cold-chain home collection are provided daily from 8 AM to 11 PM.

Test Overview & Methodology

This advanced genetic test employs Next-Generation Sequencing (NGS) with full-gene coverage of the ACTN1 locus, enabling detection of both known and novel pathogenic variants associated with qualitative platelet defects. The analysis is performed on genomic DNA extracted from a peripheral whole blood specimen. Bioinformatic pipelines align sequence reads against the GRCh38 human reference genome, and variant interpretation follows ACMG/AMP guidelines. The result is integrated with clinical bleeding history and family pedigree data for comprehensive diagnostic reporting.

Feature Our Test (ACTN1 NGS) Closest Alternative
Methodology NGS with full gene sequencing Sanger sequencing (limited to known mutations)
Turnaround Time 3–4 Weeks 4–6 Weeks
Diagnostic Coverage Comprehensive variant detection including novel mutations Targeted hotspot analysis only

Physician Insight & Safety Protocols

Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403

A positive finding in the ACTN1 gene indicates a hereditary predisposition to platelet-type bleeding disorder; however, this result must be interpreted alongside bleeding phenotype, platelet function studies, and family segregation data. Genetic testing is a complementary diagnostic tool, not a standalone verdict. Our protocol includes mandatory pre-test counseling to ensure informed consent and post-test telephonic guidance for all patients.

⚠️ Advisory on Medication Continuity

Patients must not alter or discontinue any prescribed antiplatelet or anticoagulant therapy without direct consultation with their managing physician. The genetic test result does not replace clinical judgment regarding medication management.

Exclusion Criteria & ER Red Flags

  • Active severe bleeding or platelet count below 20,000/µL – immediate emergency care required.
  • Recent blood transfusion (within 2 weeks) may confound genetic results; defer collection until after this window.
  • Pregnant individuals should consult a hematologist prior to testing.
  • Children under 12 years require coordinated testing with parental consent and pre-test counseling in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.

Patient FAQ & Clinical Guidance

1. What is the diagnostic accuracy of the ACTN1 genetic test for platelet-type 15 bleeding disorder?

Our NGS assay achieves 99.9% diagnostic sensitivity for pathogenic variants in the ACTN1 gene, validated against ClinVar and gnomAD reference databases. The test detects single‑nucleotide variants, insertions, deletions, and copy number alterations across all coding exons and conserved non‑coding regions.

2. What preparation is required before providing a blood sample?

No fasting is necessary. However, a detailed clinical history documenting bleeding symptoms, a three‑generation family pedigree chart, and any prior platelet function test results are essential for accurate variant interpretation and clinical reporting.

3. Will my health insurance cover the cost of this genetic test?

Many UAE‑based insurers require pre‑authorization for genetic testing. Our billing team verifies direct coverage via WhatsApp at +971 54 548 8731 prior to sample collection. Out‑of‑pocket cost is 2800 AED.

UAE Regulatory & Data Privacy Adherence

DNA Labs UAE operates under DHA Facility License No. 1143 and strictly complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient genetic data handling, storage, and transmission. All clinical testing and patient consent procedures adhere to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Safety and medical liability protocols are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Genetic results are disclosed only to the ordering physician and the patient after verified identity confirmation.

Clinical & Logistical Metadata

Test Name ACTN1 Gene Bleeding Disorder, Platelet-Type 15 Genetic Test
Price (AED) 2800
Turnaround Time 3–4 Weeks
Sample Type / Matrix Peripheral Whole Blood – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (daily 8 AM – 11 PM)
Methodology Used Next‑Generation Sequencing (NGS) – Full Gene Sequencing
ICD-10-CM Code D69.1
LOINC Code 78041-7
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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