10/30/2026, 6:36:19 AM · PharmCAT 3.4.0 · Research record, not medical advice
- read 6 gene calls19.7s
- PharmCATstandardised 6 genes6.6s
- Rules0 coverage gaps
Calls each call quoted from the source, then standardised by PharmCAT
Demo Molecular Diagnostics (synthetic sample report, not a real laboratory) · 21 Oct 2026 · open original photo
| Gene | As printed | Standardised | Phenotype term |
|---|---|---|---|
| CYP2C19 | “*2/*2 Poor metabolizer” | *2/*2 | Poor Metabolizer |
| CYP2D6 | “*1/*4 Intermediate metabolizer (AS 1.0)” | *1/*4 | Intermediate Metabolizer · activity 1.0 |
| DPYD | “c.1236G>A heterozygous (HapB3); c.85T>C heterozygous; others not detected Decreased DPD activity possible (HapB3 carrier). Activity score 1.5” | c.85T>C (*9A)/c.1129-5923C>G, c.1236G>A (HapB3) | Intermediate Metabolizer · activity 1.5 |
| NUDT15 | “c.415C>T heterozygous (*1/*3) Intermediate metabolizer” | *1/*3 | Intermediate Metabolizer |
| TPMT | “*1/*1 Normal metabolizer” | *1/*1 | Normal Metabolizer |
| UGT1A1 | “TA6/TA7 (*1/*28) Intermediate metabolizer” | *1/*28 | Intermediate Metabolizer |
Method as printed: Targeted genotyping by real-time PCR (TaqMan) and fragment analysis for the UGT1A1 TA repeat. Only the listed variants are assayed; variants outside this panel cannot be excluded. Reference genome GRCh38. Nomenclature per PharmVar/ClinPGx. Report ID DMD-PGX-2026-0417.
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: Targeted panel: only the listed variants are assayed; variants outside this panel cannot be excluded. TPMT *1/*1 reflects only tested alleles (*2, *3A, *3B, *3C); untested variants cannot be excluded. Synthetic sample report for software testing, not a real 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