PGx Diagnostic Testing

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.

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