10/30/2026, 6:26:46 AM · PharmCAT 3.4.0 · Research record, not medical advice
- read 4 gene calls12.9s
- PharmCATstandardised 4 genes11.3s
- Rules0 coverage gaps
Calls each call quoted from the source, then standardised by PharmCAT
Example Pharmacogenomics Centre, Mumbai · FOR SOFTWARE TESTING · 2 Oct 2026 · open original photo
| Gene | As printed | Standardised | Phenotype term |
|---|---|---|---|
| CYP2C19 | “CYP2C19 | Phenotype: Poor metabolizer | *2 | Detected (homozygous) | *3 | Not detected | *17 | Not detected” | *2/*2 | Poor 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 |
| DPYD | “DPYD | Phenotype: Normal metabolizer | c.1236G>A (HapB3) | Not detected | c.85T>C (*9A) | Detected (heterozygous) | c.1905+1G>A (*2A) | Not detected | c.1679T>G (*13) | Not detected | c.2846A>T | Not detected” | Reference/c.85T>C (*9A) | Normal Metabolizer · activity 2.0 |
| TPMT | “TPMT | Phenotype: Intermediate metabolizer | *2 | Not detected | *3A | Not detected | *3B | Not detected | *3C | Detected (heterozygous)” | *1/*3C | Intermediate 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)
Most common TPMT variant in South Asians
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. CYP2D6 *1/*1 inferred from non-detection of tested alleles; 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
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