10/30/2026, 1:56:27 PM · PharmCAT 3.4.0 · Research record, not medical advice
- read 2 gene calls9.5s
- PharmCATstandardised 2 genes11.7s
- Rules1 coverage gap
Calls each call quoted from the source, then standardised by PharmCAT
Demo Precision Oncology Labs, Chennai · SYNTHETIC · 7 Oct 2026 · open original photo
| Gene | As printed | Standardised | Phenotype term |
|---|---|---|---|
| CYP2C19 | “CYP2C19. Genotype *17/*1, consistent with a rapid metabolizer.” | *17/*1 | Rapid Metabolizer |
| CYP2D6 | “CYP2D6. Genotype *2/*1, consistent with a normal metabolizer (activity score 2).” | *2/*1 | Normal Metabolizer · activity 2.0 |
Method as printed: Sample: peripheral blood (EDTA). 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. 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