10/30/2026, 6:28:28 AM · PharmCAT 3.4.0 · Research record, not medical advice
- read 6 gene calls14.9s
- PharmCATstandardised 6 genes6.4s
- Rules0 coverage gaps
Calls each call quoted from the source, then standardised by PharmCAT
Example Pharmacogenomics Centre, Mumbai · FOR SOFTWARE TESTING · 11 Oct 2026 · open original photo
| Gene | As printed | Standardised | Phenotype term |
|---|---|---|---|
| CYP2C19 | “CYP2C19 Phenotype: Intermediate metabolizer *2 Detected (heterozygous) *3 Not detected *17 Not detected” | *1/*2 | Intermediate 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: 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 |
| NUDT15 | “NUDT15 Phenotype: Intermediate metabolizer *3 Detected (heterozygous)” | *1/*3 | Intermediate Metabolizer |
| TPMT | “TPMT Phenotype: Intermediate metabolizer *2 Not detected *3A Not detected *3B Not detected *3C Detected (heterozygous)” | *1/*3C | Intermediate Metabolizer |
| UGT1A1 | “UGT1A1 Phenotype: Normal metabolizer *28 Not detected *6 Not detected” | *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)
TA-repeat allele, common in South Asians
East Asian allele; reported at low frequency in India
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: UGT1A1 *1/*1 is based only on *28 and *6 tested; variants outside this panel cannot be excluded. CYP2D6 *1/*1 is based only on *2, *3, *4, *5, *6, *10, *41 tested; variants outside this panel cannot be excluded. 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