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Pharmacogenetic Screening

A pharmacogenomic test that evaluates genetic variants affecting drug metabolism, efficacy, toxicity, and individual medication response.

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Description

iLab Medical Pharmacogenetic Screening utilizes Next-Generation Sequencing (NGS) Whole Exome Sequencing (WES) to evaluate genetic variants that influence drug metabolism, pharmacokinetics, pharmacodynamics, and individual response to medications.

Pharmacogenomic variability significantly contributes to interindividual differences in drug efficacy, toxicity, and adverse drug reactions. Genetic polymorphisms affecting drug-metabolizing enzymes, transporters, and drug targets can alter therapeutic outcomes and increase the risk of treatment failure or severe side effects.

This test is designed for healthcare providers, hospitals, precision medicine programs, and laboratories seeking to support genotype-guided drug selection and dosing strategies.

Unlike standard prescribing approaches, pharmacogenetic screening helps identify clinically relevant genetic factors that influence medication safety and treatment response across multiple therapeutic areas.

FOR LABORATORIES

Cardiovascular medications, psychiatric medications, oncology therapeutics, pain management, genotype-guided prescribing, and adverse drug reaction risk assessment.

Benefits

Supports genotype-guided drug selection and dosing
Reduces the risk of adverse drug reactions
Improves therapeutic efficacy across medication classes
Provides clinically relevant metabolizer status classification
Supports safer prescribing in cardiology, psychiatry, oncology, and pain care
Enables more personalized long-term medication management

Process

Sample collection is performed using peripheral venous blood collected in an EDTA tube. Purified genomic DNA may also be accepted as an alternative specimen when quality requirements are met.

After specimen receipt, DNA is processed for Whole Exome Sequencing and bioinformatic analysis focused on clinically relevant pharmacogenes. Variants are interpreted in the context of current pharmacogenomic guidelines and reported with medication-related relevance where applicable.

The final report supports precision prescribing by identifying genetic factors that may influence efficacy, toxicity, dosing requirements, and adverse drug reaction risk across multiple medication classes.

FOR LABORATORIES

Specimen Requirements

Sample Type

  • Peripheral venous blood

Collection Tube

  • EDTA (lavender-top) tube

Volume

  • 2-4 mL whole blood

Handling Instructions

  • Store at 2-8°C if not processed immediately
  • Avoid hemolysis
  • Transport according to molecular testing guidelines
  • Purified genomic DNA may be accepted as an alternative
  • Recommended DNA input: 1 µg
  • Recommended concentration: 100-250 ng/µL
  • Recommended A260/A280 ratio: 1.8-2.0

Turnaround Time (TAT)

  • Approximately 6-9 weeks from receipt of acceptable specimen

Clinical Utility

  • Precision prescribing
  • Reduction of adverse drug reactions
  • Optimization of therapeutic efficacy
  • Improved patient safety
  • Long-term medication management planning

Limitations

  • Not all drug-gene interactions are fully characterized
  • Environmental, comorbid, and drug-drug interactions must also be considered
  • Interpretation should be integrated with clinical evaluation

How it works

After sample collection, DNA is extracted and analyzed using Whole Exome Sequencing on an NGS platform. The assay evaluates coding regions of key pharmacogenes involved in drug metabolism, transport, and target response.

The analysis includes clinically relevant variants in Phase I enzymes, Phase II enzymes, drug transporters, and drug target receptors and signaling genes. Detected variants are interpreted using recognized pharmacogenomic frameworks and evidence-based reference sources.

The final report provides clinically relevant genotype findings and, where applicable, metabolizer status classification such as poor, intermediate, normal, rapid, or ultra-rapid metabolizer. These results support safer prescribing and more individualized treatment decisions.

FOR LABORATORIES

Methodology

  • Whole Exome Sequencing using a Next-Generation Sequencing platform
  • Coverage of coding regions of clinically relevant pharmacogenes
  • Interpretation based on CPIC guidelines, PharmGKB database, and DPWG recommendations
  • Classification of metabolizer status where applicable

Genes and Variant Types Assessed

Pharmacogene Coverage

  • Phase I enzymes including CYP450 family genes
  • Phase II enzymes including TPMT, UGTs, and NAT2
  • Drug transporters including SLCO1B1 and ABC transporters
  • Drug target receptors and signaling genes

Variant Types Detected

  • Single Nucleotide Variants (SNVs)
  • Small insertions and deletions (indels)
  • Selected copy number variations (CNVs) where applicable

Clinical Application Areas

Cardiovascular Medications

  • Antiplatelet agents including clopidogrel response
  • Anticoagulants including warfarin-related variants
  • Statin-associated myopathy risk
  • Beta-blockers and antiarrhythmics

Psychiatric Medications

  • Antidepressants including SSRIs, SNRIs, and TCAs
  • Antipsychotics
  • Mood stabilizers
  • Anxiolytics

Oncology Therapeutics

  • Fluoropyrimidines
  • Thiopurines
  • Irinotecan
  • Targeted therapies influenced by metabolic pathways

Pain Management

  • Opioid metabolism
  • Codeine and tramadol activation
  • NSAID metabolism
  • Risk of analgesic inefficacy or drug toxicity
Pharmacogenetic Screening
Consultation for clinics