PGx Diagnostic Testing
(1 ml), buccal swab
PGx diagnostic testing includes a range of clinically focused tests designed to support treatment decisions in patients with a medical indication for therapy. These tests help identify genetic factors that may explain adverse drug reactions (ADRs), reduced efficacy, or dosing challenges by analyzing variants that affect drug metabolism, transport, and drug–target interactions.
PGx diagnostic testing is clinically indicated for patients presenting with:
- Patients with unexplained side effects or poor drug response
- Individuals on high-risk medications (e.g., chemotherapy, psychotropics)
- Cases flagged by therapeutic drug monitoring (TDM) or medication review
- Patients with a clinical indication prior to initiating high-risk treatment
PGx diagnostic testing provides the essential genetic information required for personalised prescribing in active patient care. This testing delivers clinically actionable insights by identifying individuals at high risk of ADRs due to altered metabolism, allowing for prophylactic dose reduction or drug substitution. It provides genotype-guided recommendations for drug selection and dose adjustment to maximise treatment efficacy from the outset, supporting evidence-based decision-making that aligns with major clinical guidelines.
A comprehensive, clinically relevant report detailing the results of the PGx diagnostic testing is provided.
The report includes:
- Actionable insights: Clear and actionable insights based on the individual’s genetic profile.
- Variant details: A summary of the results, including specific genetic variant details, predicted therapeutic relevance, and interpretation guidance.
- Genotype-guided recommendations: Specific recommendations for drug selection, dose optimization, and management strategies based on the identified genetic variants and adherence to clinical guidelines.
Our genetic tests
PGx diagnostic test results provide critical, actionable guidance that should be integrated into the patient’s clinical management plan, including:
- Therapeutic adjustment: Implementation of genotype-guided dose optimisation or drug selection based on the report’s recommendations.
- Integration with TDM: Use of PGx diagnostic test results to better interpret drug levels obtained through Therapeutic Drug Monitoring and refine complex dosing regimens.
- Adherence to guidelines: Clinicians should refer to current international recommendations (CPIC, DPWG, FDA) to ensure optimal application of the PGx data.
is an essential part of the testing process and is available both before and after testing. Our genetic counsellors conduct comprehensive family history assessments, explain the chosen testing methodology, its benefits, risks, and limitations, and provide guidance on result interpretation, management strategies, and recurrence risk. Counselling supports physicians in delivering informed care and helps patients and families make well-informed medical decisions. Availability of genetic counselling services may vary by country, so please to check for more information on access in your region.
We employ a targeted, multi-platform approach to ensure high accuracy and comprehensive analysis across all relevant PGx genes. Our technologies include:
- NGS-based amplicon sequencing (Illumina short-read + PacBio long-read)
PGx Anesthesia and Pain, PGx Cardiovascular, PGx CYP450 Drug Response, PGx Metabolic Syndrome, PGx Neurology and Psychiatry, PGx Oncology - NGS panel with CNV analysis (Illumina short-read)
PGx Malignant Hyperthermia - NGS-based amplicon sequencing (Illumina + PacBio) + SSO (sequence-specific oligonucleotides)
PGx Abacavir, PGx Carbamazepine - NGS-based amplicon sequencing (PacBio long-read)
PGx Eliglustat, PGx Tamoxifen - Quantitative real-time PCR (qPCR)
PGx 5-Fluorouracil, PGx Irinotecan, PGx Mavacamten, PGx Siponimod - NGS-based amplicon sequencing (Illumina short-read)
PGx Azathioprine, PGx Paclitaxel
Frequently asked questions
Pharmacogenomics (PGx) examines how an individual’s genetic makeup affects their response to drugs. PGx testing benefits patient care by identifying those at risk of severe side effects or treatment failure, enabling the clinician to select the safest and most effective drug and dose from the start (precision medicine).
PGx diagnostic testing should be considered both proactively (prior to initiating therapy with high-risk drugs, e.g., certain antidepressants or opioids) and reactively (in cases of unexplained drug toxicity, treatment non-response, or when complex dosing is required).
Yes. Our PGx diagnostic testing results are highly actionable. They are reported with clear, genotype-guided recommendations for drug selection and dose adjustments, based on clinical guidelines established by leading bodies like CPIC and DPWG.
PGx results provide critical context by defining the patient’s likely drug metabolism rate. This information helps clinicians better interpret drug levels obtained through TDM, especially in cases where drug levels are unexpectedly high or low, allowing for a more accurate and precise refinement of complex dosing regimens.
PGx diagnostic testing is highly beneficial across specialties dealing with high-risk or long-term drug use. This includes psychiatry, cardiology, pain management, and oncology, for managing drug efficacy, toxicity, and proper dosing.
Our diagnostic testing targets specific genetic variants, including SNPs and structural variations (e.g., duplications, deletions), in genes that code for key drug-metabolising enzymes (CYP450), drug transporters, and drug targets. These variants are chosen based on their established clinical relevance as defined by international guidelines.
Get in touch with us
Our team of experts is here to support you at every stage.
Are you a patient?
Why Medicover Genetics
Leader in genetic testing with >25 years of experience in counselling and diagnostics
Comprehensive CE-IVD kit portfolio and seamless Technology Transfer solution for laboratories of any size
End-to-end clinical workflow from sample processing to sequencing analysis and reporting
CAP- accredited, GMP- and ISO9001, 15189 and 13485 certified
Certified laboratories
