PHARMAVAR

Blood: 3ml whole blood in lavender top (EDTA) tube.

Saliva: Oragene Dx Salive Collection Kit for DNA diagnostics (OGD-600)

Blood: 1ml

5 days (ambient), 30 days (refrigerated)

Incorrect sample type, insufficient volume.

*1 or wild type allele

7-14 working days

Real-time PCR assay using TaqMan®  polymerase chain reaction (PCR) with fluorescence detection.

Molecular Diagnostics Laboratory

PGx

This test is used to identify specific genetic variants across nine pharmacogenes relevant to drug metabolism, transport, and response.

This test does not replace clinical judgment, therapeutic drug monitoring, or other relevant laboratory testing. Medication selection and dosing decisions should be made in consultation with a qualified healthcare provider.

Patient Informed Consent Form:  https://www.medialab.com/dv/dl.aspx?d=3516363&dh=bfc478ba13e4&u=87474&uh=5f4270a01f6d

Test Description

This pharmacogenomics (PGx) test is performed using the premade TrueMark PGx Panel, 384-Well Plate (ThermoFisher Scientific). The assay utilizes TaqMan® polymerase chain reaction (PCR) with fluorescence detection to identify specific genetic variants across nine pharmacogenes relevant to drug metabolism, transport, and response.

Genes and Variants Analyzed

Detection of the *1 allele indicates no targeted variants were detected and an assumption of normal (functional) allele status.

• CYP2B6: *4, *6, *18, *36
• CYP2C19: *2, *3, *6, *8, *9, *10, *17
• CYP2C9: *2, *3, *5, *6, *8, *11, *13, *16
• CYP2D6: *2, *3, *4, *6, *7, *9, *10, *12, *17, *21, *29, *41, *49, including copy number variants
• CYP3A5: *3, *6, *7
• CYP4F2: c.1297G>A (*3 or *4)
• SLCO1B1: *5, *9, *14, *15, *37
• VKORC1: c.-1639G>A
• CYP2C Gene Cluster: g.94645745G>A

Limitations

This assay detects only the specific genes and variants included in the panel. Allele assignment involves assumptions regarding phase and variant content. Rare sequence variants, structural variations not included in the assay, or variants outside the targeted regions may not be detected and could result in diagnostic inaccuracies.

Clinical Disclaimer

Interpretation of genotypes and predicted phenotypes is informed by publicly available resources, including Clinical Pharmacogenetics (ClinPGx) guidance. This test does not replace clinical judgment, therapeutic drug monitoring, or other relevant laboratory testing. Medication selection and dosing decisions should be made in consultation with a qualified healthcare provider.

Drug response and risk of adverse events are influenced by both genetic and non-genetic factors, some of which are not evaluated by this test. Results should not be used as the sole basis for clinical decision-making.

This test was developed, and its performance characteristics determined by UTMB Molecular Diagnostics Laboratory. It has not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA does not require this test to go through premarket FDA review. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing. The result is not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Genetic consultation and informed consent are recommended prior to testing. Consent form is available online.

References

• ThermoFisher Scientific. TrueMark PGx Panel, 384-Well Plate User Guide (Pub. No. MAN0030150 Rev. A)
• Clinical Pharmacogenetics (ClinPGx)