10/30/2026, 6:26:44 AM · PharmCAT 3.4.0 · Research record, not medical advice
- read 4 gene calls13.0s
- PharmCATstandardised 4 genes11.1s
- Rules6 coverage gaps
Calls each call quoted from the source, then standardised by PharmCAT
Demo Precision Oncology Labs, Chennai · SYNTHETIC · 8 Oct 2026 · open original photo
| Gene | As printed | Standardised | Phenotype term |
|---|---|---|---|
| CYP2C19 | “CYP2C19. Genotype *2/*2, consistent with a poor metabolizer.” | *2/*2 | Poor Metabolizer |
| CYP2D6 | “CYP2D6. Genotype *1/*4, consistent with a intermediate metabolizer (activity score 1).” | *1/*4 | Intermediate Metabolizer · activity 1.0 |
| DPYD | “DPYD. The patient carries DPYD c.1905+1G>A (*2A) heterozygous. Predicted DPD phenotype: intermediate metabolizer (activity score 1).” | Reference/c.1905+1G>A (*2A) | Intermediate Metabolizer · activity 1.0 |
| NUDT15 | “NUDT15. Genotype *1/*1, consistent with a normal metabolizer.” | *1/*1 | Normal Metabolizer |
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
Most common Indian decreased-function DPYD variant (~3.3%, PMID 40810747)
~25% in Indians; toxicity signal in South Indian cohorts (PMC11300675)
European tier-1 variant; rare in Indians (PMID 40810747)
Tier-1 no-function variant (PMID 39032821)
Tier-1 variant; near-absent in Indians (PMID 40810747)
Main NUDT15 risk allele, ~7-11% in Indians (PMID 29470173)
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. A patient or lab reference printed on the report was removed before storage. Reader notes: Only the listed variants are assayed; variants outside this panel cannot be excluded.
Exportde-identified · the same record in three formats
Curator review
This is a read-only sample. In the pilot, 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.
Sign in with the pilot code