10/30/2026, 1:56:05 PM · PharmCAT 3.4.0 · Research record, not medical advice
- read 2 gene calls9.5s
- PharmCATstandardised 2 genes8.1s
- Rules0 coverage gaps
Calls each call quoted from the source, then standardised by PharmCAT
Example Pharmacogenomics Centre, Mumbai · FOR SOFTWARE TESTING · 8 Oct 2026 · open original photo
| Gene | As printed | Standardised | Phenotype term |
|---|---|---|---|
| CYP2C19 | “CYP2C19 Phenotype: Ultrarapid metabolizer *2 Not detected *3 Not detected *17 Detected (homozygous)” | *17/*17 | Ultrarapid Metabolizer |
| CYP2D6 | “CYP2D6 Phenotype: Normal metabolizer *2 Not detected *3 Not detected *4 Not detected *5 Not detected *6 Not detected *10 Not detected *41 Not detected” | *1/*1 | Normal Metabolizer · activity 2.0 |
Method as printed: Method: targeted genotyping by real-time PCR. Only the listed variants are assayed; variants outside this panel cannot be excluded.
Coveragedeterministic rules · which India-relevant variants this panel named
Common no-function allele in South Asians
Increased-function allele
A variant the panel did not name is left out of cohort statistics for that variant, rather than counted as absent. Reader notes: Only the listed variants are assayed; variants outside this panel cannot be excluded. CYP2D6 negative targeted panel defaulted to *1/*1; untested variants cannot be excluded. Synthetic document generated for software benchmarking. Not a real patient or laboratory.
Exportde-identified · the same record in three formats
Curator review
A curator checks each call against the source document before the record counts in a cohort, and Muse Spark web search finds published Indian frequency data for each variant. Both are written to the audit log. Reviewing is the one action that needs a curator code, because it is a claim that a person checked the page.
Sign in as a curator