Table 2.
Explanations of genomic test result resource profiles and examples from the test report.
Profile | Explanation | Example from test report |
---|---|---|
Observation (obs-overall) | Overall Genomic Interpretation: a high-level summary observation of the entire report | One copy of the SLCO1B1*5 allele was detected; therefore, decreased transporter function is predicted. |
Observation (obs-implication) | Genetic Implication: These represent observations about the patient based on the genetic test results. | This patient is at increased risk for muscle toxicity related to simvastatin use…(snipped for brevity). |
Observation (obs-genotype) | Genotype: combinations of genetic variations that together are associated with a particular phenotype | *5/Neg * |
Observation (obs-variant) | Variant: differences between parts of specimen sequences and the equivalent portions of reference sequence(s). | c.521T<C |