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IndiPGx-Pop p101

Lab reportcohort · india-sim

10/30/2026, 1:56:21 PM · PharmCAT 3.4.0 · Research record, not medical advice

1
Genes standardised
1
Calls quoted
0
Coverage gaps
0
Identifiers removed
23.2s
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  1. Muse Sparkread 1 gene calls12.6s
  2. PharmCATstandardised 1 genes10.6s
  3. Rules0 coverage gaps

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

Sample Molecular Diagnostics, Bengaluru - NOT A REAL LAB · 13 Oct 2026 · open original photo

Uploaded lab report photo
GeneAs printedStandardisedPhenotype term
CYP2C19“CYP2C19 rs4244285 G/A Heterozygous; CYP2C19 rs4986893 G/G Wild type; CYP2C19 rs12248560 C/C Wild type. Genotypes are reported per rsID on the forward strand. Star-allele assignment is left to the treating clinician.”*1/*2Intermediate 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

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. Star-allele assignment was left to the treating clinician; *1/*2 inferred from rsID mapping: rs4244285 het -> *2, rs4986893 wild type, rs12248560 wild type. 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/275978829b0b/audit.log.