Diagnosis; Drug Response; Monitoring; Predictive; Risk Assessment; Screening; Therapeutic management

With the goal to detect and predict if genetic variants are related to the presence, absence, or risk of diseases, IGX directly sources the drug-gene interaction pairs and actions to be taken for the PGx test from biomarker information found in the FDA’s Table of Pharmacogenetic Associations. This table illustrates … With the goal to detect and predict if genetic variants are related to the presence, absence, or risk of diseases, IGX directly sources the drug-gene interaction pairs and actions to be taken for the PGx test from biomarker information found in the FDA’s Table of Pharmacogenetic Associations. This table illustrates patient subgroups with genetic variants, or genetic variant-inferred phenotypes that are likely to have altered drug metabolism, and in some instances, differential therapeutic effects, including differences in adverse events risks. Additionally, IGX directly sources drug-gene interactions from the FDA’s Table of Pharmacogenomic Biomarkers in Drug Labeling, which lists therapeutic products from the Drugs@FDA website with pharmacogenomic information in their drug labeling. From the Clinical Pharmacogenetics Implementation Consortium (CPIC), IGX only sources Level A and B gene-drug pairs and clinical practice guidelines for inclusion in the PGx test. The target population for the test are adults whose providers have identified on them therapeutic failure, personal or family history of adverse drug reactions, experiencing polypharmacy, the medications they intend to use have FDA black box labels, and/or provide pharmacogenomics guidance and recommendations in their labels, or the provider has identified that either the patient establishes an exaggerated response to a medication’s standard dose, or requires a higher dose to achieve the desired response. View more

Guidance for selecting a drug therapy and/or dose

Patients with a family history of a serious adverse drug reaction(s) or known pharmacogenomic variant(s); Patients who have experienced multiple treatment failures; Patients who have had severe adverse drug reactions or complications due to medications; Identifying patients who require a higher or lower than standard dose of a medication.

Sample Negative Report Help
Revised report requested by NCBI

Sample Positive Report Help
Revised report requested by NCBI

The assays principle is to capture a robust and diverse amount of targets to generate a comprehensive Pharmacogenomics panel with the implementation of Next Generation Sequencing (NGS). The method of library preparation is Targeted Amplicon based sequencing, which was designed in collaboration with Paragon Genomics. The product of the Library … The assays principle is to capture a robust and diverse amount of targets to generate a comprehensive Pharmacogenomics panel with the implementation of Next Generation Sequencing (NGS). The method of library preparation is Targeted Amplicon based sequencing, which was designed in collaboration with Paragon Genomics. The product of the Library prep is then sequenced using Illumina MiSeq Dx sequencers, and run through an in-house designed bioinformatic pipeline to handle variant calling and interpretation. The purpose of the qPCR is to supplement the NGS PGx Panel with additional variants not covered within our panel. These variants will be genotyped via qPCR using Thermofisher TaqMan genotyping assay. In addition to added variants, it will also act as a backup for variants that may fall below QC metrics to confirm genotyping. Data obtained from NGS will be processed by a validated internal bioinformatic pipeline for calling variants. These data will be combined with the data generated from qPCR for making clinical reports. View more

The PGX test was fully validated with >99.99% accuracy. In each run, 4 positive control samples obtained from Coriell are used to confirm the accuracy of the test in terms of copy number variant and SNP/variant calling.

Patients with a past medical history of the following conditions have limitations for PGX testing: Presence of hematological malignancy affecting white blood cells; Recent (<20 days) whole blood transfusion; Bone marrow or stem cell transplant.

Tests performed
Entire test performed in-house

IGX Pharmacogenomics panel genotypes 67 genes using Next Generation Sequencing (NGS) and qPCR. The PGX test was developed and validated for accuracy and precision by Innovative Gx Laboratories, San Antonio TX in cooperation with Paragon Genomics. The sensivity and specificity of this test is 99.9% and 99.9% respectively. 5 control … IGX Pharmacogenomics panel genotypes 67 genes using Next Generation Sequencing (NGS) and qPCR. The PGX test was developed and validated for accuracy and precision by Innovative Gx Laboratories, San Antonio TX in cooperation with Paragon Genomics. The sensivity and specificity of this test is 99.9% and 99.9% respectively. 5 control Coriell samples which were completely sequenced by whole genome sequencing and genotyped by multiple labs were used for validation. View more

CYP2D6 hybrid alleles are not detected by the assay. CYP2D6 CNV was called by performing normalization of the NGS reads from the test samples compared to the positive control samples included in each run, and therefore, CNV >3 copies are not reliably detected.

Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

Description of PT method: Help
DNA sequencing. For the CAP PGX-B 2022 #36105168, evaluation date 2/3/2023, IGX obtained 100% satisfactory, 6 samples were tested.

Description of internal test validation method: Help
4 positive control DNA samples are included in each PGX run. The results obtained for those data should be 100% match and consistent with the validation study to ensure the data and results are accurate and precise. The bioinformatics pipeline used for analyzing the raw data as well as generating … 4 positive control DNA samples are included in each PGX run. The results obtained for those data should be 100% match and consistent with the validation study to ensure the data and results are accurate and precise. The bioinformatics pipeline used for analyzing the raw data as well as generating clinical reports is fully validated. Each time we received additional material from the vendor including primer/probe or library prep kits, a lot-to-lot comparison is performed to ensure the consistency of the reagents used for the test. The average coverage obtained from the NGS run is approximately 4000X with >99% of the reads having>100x. View more

Software used to interpret novel variations Help
N/A

Laboratory's policy on reporting novel variations Help
N/A