10/30/2026, 6:25:44 AM · PharmCAT 3.4.0 · Research record, not medical advice
- read 4 gene calls15.0s
- PharmCATstandardised 4 genes10.6s
- Rules0 coverage gaps
Calls each call quoted from the source, then standardised by PharmCAT
Example Pharmacogenomics Centre, Mumbai · 16 Oct 2026 · open original photo
| Gene | As printed | Standardised | Phenotype term |
|---|---|---|---|
| CYP2C19 | “CYP2C19 Phenotype: Poor metabolizer *2 Detected (heterozygous) *3 Detected (heterozygous) *17 Not detected” | *2/*3 | Poor Metabolizer |
| CYP2D6 | “CYP2D6 Phenotype: Intermediate metabolizer *2 Not detected *3 Not detected *4 Detected (heterozygous) *5 Not detected *6 Not detected *10 Detected (heterozygous) *41 Not detected” | *4/*10 | Intermediate Metabolizer · activity 0.25 |
| DPYD | “DPYD Phenotype: Intermediate metabolizer c.1236G>A (HapB3) Detected (heterozygous) c.85T>C (*9A) Detected (heterozygous) c.1905+1G>A (*2A) Not detected c.1679T>G (*13) Not detected c.2846A>T Not detected” | c.85T>C (*9A)/c.1129-5923C>G, c.1236G>A (HapB3) | Intermediate Metabolizer · activity 1.5 |
| UGT1A1 | “UGT1A1 Phenotype: Intermediate metabolizer *28 Detected (heterozygous) *6 Not detected” | *1/*28 | 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)
TA-repeat allele, common in South Asians
East Asian allele; reported at low frequency in India
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. 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