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IndiPGx-Pop p107

Lab reportcohort · india-sim

10/30/2026, 1:57:05 PM · PharmCAT 3.4.0 · Research record, not medical advice

2
Genes standardised
2
Calls quoted
0
Coverage gaps
0
Identifiers removed
21.9s
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  1. Muse Sparkread 2 gene calls10.4s
  2. PharmCATstandardised 2 genes11.5s
  3. Rules0 coverage gaps

CallsMuse Spark each call quoted from the source, then standardised by PharmCAT

Example Pharmacogenomics Centre, Mumbai · 26 Oct 2026 · open original photo

Uploaded lab report photo
GeneAs printedStandardisedPhenotype term
CYP2C19“CYP2C19 Phenotype: Intermediate metabolizer *2 Detected (heterozygous) *3 Not detected *17 Not detected”*1/*2Intermediate Metabolizer
CYP2D6“CYP2D6 Phenotype: Intermediate metabolizer *2 Not detected *3 Not detected *4 Not detected *5 Not detected *6 Not detected *10 Detected (heterozygous) *41 Detected (heterozygous)”*10/*41Intermediate Metabolizer · activity 0.5

Method as printed: Sample: peripheral blood (EDTA). 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

CYP2C19*2named on the report

Common no-function allele in South Asians

CYP2C19*17named on the report

Increased-function allele

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. 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.

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Research tool, not medical advice. Pathya reads and standardises pharmacogenomic results; it makes no dose, drug or test recommendation. Audit log: data/cases/ba93c14b4e31/audit.log.