10/30/2026, 6:26:29 AM · PharmCAT 3.4.0 · Research record, not medical advice
- read 4 gene calls8.7s
- PharmCATstandardised 4 genes6.7s
- Rules0 coverage gaps
Calls each call quoted from the source, then standardised by PharmCAT
Sample Molecular Diagnostics, Bengaluru · NOT A REAL LAB · 14 Oct 2026 · open original photo
| Gene | As printed | Standardised | Phenotype term |
|---|---|---|---|
| DPYD | “DPYD rs75017182 C/G Heterozygous; DPYD rs1801265 A/G Heterozygous; DPYD rs3918290 C/C Wild type; DPYD rs55886062 A/A Wild type; DPYD rs67376798 T/T Wild type” | c.85T>C (*9A)/c.1129-5923C>G, c.1236G>A (HapB3) | Intermediate Metabolizer · activity 1.5 |
| NUDT15 | “NUDT15 rs116855232 C/T Heterozygous” | *1/*3 | Intermediate Metabolizer |
| TPMT | “TPMT rs1142345 A/A Wild type; TPMT rs1800460 C/C Wild type” | *1/*1 | Normal Metabolizer |
| UGT1A1 | “UGT1A1 rs3064744 (TA)7/(TA)7 Homozygous; UGT1A1 rs4148323 G/G Wild type” | *28/*28 | Poor Metabolizer |
Method as printed: Genotypes are reported per rsID on the forward strand. Star-allele assignment is left to the treating clinician. 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
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: Star-allele assignment is left to the treating clinician; diplotypes inferred from rsID mapping per schema. 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