10/30/2026, 6:25:52 AM · PharmCAT 3.4.0 · Research record, not medical advice
- read 3 gene calls12.4s
- PharmCATstandardised 3 genes14.3s
- Rules0 coverage gaps
- Curatorverified (AR)
Calls each call quoted from the source, then standardised by PharmCAT
Sample Molecular Diagnostics, Bengaluru - NOT A REAL LAB · 23 Oct 2026 · open original photo
| Gene | As printed | Standardised | Phenotype term |
|---|---|---|---|
| DPYD | “DPYD rs75017182 C/C Wild type; DPYD rs1801265 A/A Wild type; DPYD rs3918290 C/C Wild type; DPYD rs55886062 A/A Wild type; DPYD rs67376798 T/A Heterozygous” | Reference/c.2846A>T | Intermediate Metabolizer · activity 1.5 |
| 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: Method: targeted genotyping by real-time PCR. Only the listed variants are assayed; variants outside this panel cannot be excluded. Genotypes are reported per rsID on the forward strand. Star-allele assignment is left to the treating clinician.
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
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. Reader notes: Only the listed variants are assayed; variants outside this panel cannot be excluded. Star-allele assignment is left to the treating clinician. Synthetic document generated for software benchmarking. Not a real patient or laboratory.
Exportde-identified · the same record in three formats
Curator review
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. Reviewing is the one action that needs a curator code, because it is a claim that a person checked the page.
Sign in as a curator