PEAR1 Gene Platelet Aggregation Disorder Genetic Test – NGS Analysis

Executive Summary & Core Metrics

Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS processing.
Premium Logistics: VIP mobile phlebotomy & temperature-controlled cold-chain home collection available daily 8 AM – 11 PM.
Clinical Guidance: Complimentary post-test telephonic consultation with a DHA-licensed Consultant Medical Geneticist.
Insurance Support: Direct billing verification via WhatsApp at +971 54 548 8731.

Test Overview & Methodology

The PEAR1 gene next-generation sequencing (NGS) test detects clinically actionable variants linked to hereditary platelet aggregation disorders, providing a definitive molecular diagnosis. Results guide personalized antiplatelet therapy and family risk assessment. The test uses Illumina NGS with bioinformatic validation against the HG38 reference genome, covering the entire PEAR1 coding region and splice sites.

Feature	Our Test (NGS)	Closest Alternative (Conventional Aggregometry)
Precision	Single‑nucleotide resolution, covers entire PEAR1 coding region	Functional assay only; no genetic insight
Method	Illumina NGS with bioinformatic validation (HG38)	Light transmission aggregometry (LTA)
Turnaround	3–4 weeks (comprehensive report)	24–48 hours (limited to platelet function)
Clinical Utility	Diagnose hereditary platelet disorder, guide family screening	Assess bleeding risk, no genetic diagnosis

Physician Insight & Safety Protocols

"As a Consultant Medical Genetics at DNA Labs UAE, I emphasize that the PEAR1 gene NGS test provides critical genetic information for diagnosing hereditary platelet disorders. However, results must be interpreted by a qualified geneticist in the context of full clinical and family history. A positive result can guide personalized management, while a negative result does not rule out acquired conditions. Comprehensive genetic counseling is essential."

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License 9294403

Medication Advisory

⚠ Important:

Do not discontinue any prescribed antiplatelet or anticoagulant medication without explicit instruction from your treating physician. This test evaluates genetic predisposition and does not replace clinical judgment.

Exclusion Criteria & Safety Precautions

Exclusions: Active severe bleeding, haemodynamic instability, or known allergy to phlebotomy supplies (seek medical clearance first).
Red Flags (seek immediate emergency care): Sudden unexplained bruising, nosebleeds lasting >20 minutes, blood in urine/stool, or severe headache with neurological symptoms.
Home collection is contraindicated if you have a fever >38°C or active infection; please reschedule.

Patient FAQ & Clinical Guidance

1. What does the PEAR1 gene NGS test detect?

The test identifies pathogenic variants in the entire PEAR1 gene responsible for hereditary platelet aggregation disorders, enabling accurate diagnosis and personalised antiplatelet therapy guidance.

2. How is the sample collected and is home collection available?

A certified phlebotomist visits your home between 8 AM and 11 PM to collect a small blood sample using a temperature-controlled cold-chain transport kit. The process is quick, hygienic, and ISO‑certified. Alternatively, you may visit our facility in Dubai Healthcare City.

3. Who should consider undergoing this genetic test?

Individuals with a personal or family history of unexplained bleeding, easy bruising, or suspected inherited platelet dysfunction are ideal candidates. A certified genetic counsellor will help assess your risk profile and recommend the test if appropriate.

UAE Regulatory & Data Privacy Adherence

Data Protection & Health Information Security:

This test is performed 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. All genetic data is encrypted, anonymized, and stored within the UAE. Clinical procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability to ensure patient safety and informed consent.

Licensed Facility: DNA Labs UAE, DHA Facility License No. 1143, located at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.

Clinical & Logistical Metadata

Test Name	PEAR1 Gene NGS Test for Platelet Aggregation Disorder
Price (AED)	2,800 AED
Turnaround Time	3–4 weeks (comprehensive report)
Sample Type / Matrix	Whole blood (EDTA), extracted DNA, or FTA card (home collection compatible)
Methodology Used	Next-Generation Sequencing (NGS) – Illumina platform; bioinformatic analysis per HG38
ICD-10-CM Code	D69.1 (Qualitative platelet defects)
LOINC Code	94051-0 (PEAR1 gene mutation detection)
DHA Facility License & Laboratory Address	Facility License No. 1143 \| DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE