{
  "record": {
    "id": "0b71a9b19b2f",
    "label": "IndiPGx-Read H-r02",
    "cohort": "demo",
    "source": "report",
    "createdAt": "2026-10-30T06:27:09.021Z"
  },
  "calls": [
    {
      "gene": "CYP2C19",
      "diplotype": "*2/*17",
      "phenotype": "Intermediate Metabolizer",
      "source": "OUTSIDE"
    },
    {
      "gene": "CYP2D6",
      "diplotype": "*1/*41",
      "phenotype": "Normal Metabolizer",
      "activityScore": "1.25",
      "source": "OUTSIDE"
    },
    {
      "gene": "DPYD",
      "diplotype": "Reference/c.85T>C (*9A)",
      "phenotype": "Normal Metabolizer",
      "activityScore": "2.0",
      "source": "OUTSIDE"
    },
    {
      "gene": "NUDT15",
      "diplotype": "*1/*1",
      "phenotype": "Normal Metabolizer",
      "source": "OUTSIDE"
    },
    {
      "gene": "TPMT",
      "diplotype": "*1/*3C",
      "phenotype": "Intermediate Metabolizer",
      "source": "OUTSIDE"
    },
    {
      "gene": "UGT1A1",
      "diplotype": "*1/*6",
      "phenotype": "Intermediate Metabolizer",
      "source": "OUTSIDE"
    }
  ],
  "extract": {
    "genes": [
      {
        "activityScore": "2",
        "diplotype": "c.85T>C/Reference",
        "gene": "DPYD",
        "phenotype": "normal metabolizer",
        "verbatim": "DPYD. The patient carries DPYD c.85T>C (*9A) heterozygous. Predicted DPD phenotype: normal metabolizer (activity score 2)."
      },
      {
        "activityScore": "",
        "diplotype": "*1/*6",
        "gene": "UGT1A1",
        "phenotype": "intermediate metabolizer",
        "verbatim": "UGT1A1. Genotype *1/*6, consistent with a intermediate metabolizer."
      },
      {
        "activityScore": "",
        "diplotype": "*1/*3C",
        "gene": "TPMT",
        "phenotype": "intermediate metabolizer",
        "verbatim": "TPMT. Genotype *1/*3C, consistent with a intermediate metabolizer."
      },
      {
        "activityScore": "1.5",
        "diplotype": "*1/*41",
        "gene": "CYP2D6",
        "phenotype": "normal metabolizer",
        "verbatim": "CYP2D6. Genotype *1/*41, consistent with a normal metabolizer (activity score 1.5)."
      },
      {
        "activityScore": "",
        "diplotype": "*1/*1",
        "gene": "NUDT15",
        "phenotype": "normal metabolizer",
        "verbatim": "NUDT15. Genotype *1/*1, consistent with a normal metabolizer."
      },
      {
        "activityScore": "",
        "diplotype": "*2/*17",
        "gene": "CYP2C19",
        "phenotype": "intermediate metabolizer",
        "verbatim": "CYP2C19. Genotype *2/*17, consistent with a intermediate metabolizer."
      }
    ],
    "labName": "Demo Precision Oncology Labs, Chennai · SYNTHETIC",
    "methodNotes": "Method: targeted genotyping by real-time PCR. Only the listed variants are assayed; variants outside this panel cannot be excluded.",
    "patientRef": "",
    "reportDate": "10 Oct 2026",
    "testedVariants": [],
    "warnings": [
      "Targeted genotyping - only listed variants assayed; variants outside this panel cannot be excluded.",
      "NUDT15 *1/*1 reflects no variant detected on targeted panel; untested variants cannot be excluded.",
      "Synthetic document generated for software benchmarking. Not a real patient or laboratory."
    ]
  },
  "quality": {
    "identifierRemoved": true,
    "unread": [],
    "coverage": [
      {
        "gene": "DPYD",
        "variant": "HapB3",
        "stated": false,
        "why": "Most common Indian decreased-function DPYD variant (~3.3%, PMID 40810747)"
      },
      {
        "gene": "DPYD",
        "variant": "c.85T>C (*9A)",
        "stated": true,
        "why": "~25% in Indians; toxicity signal in South Indian cohorts (PMC11300675)"
      },
      {
        "gene": "DPYD",
        "variant": "*2A",
        "stated": false,
        "why": "European tier-1 variant; rare in Indians (PMID 40810747)"
      },
      {
        "gene": "DPYD",
        "variant": "*13",
        "stated": false,
        "why": "Tier-1 no-function variant (PMID 39032821)"
      },
      {
        "gene": "DPYD",
        "variant": "c.2846A>T",
        "stated": false,
        "why": "Tier-1 variant; near-absent in Indians (PMID 40810747)"
      },
      {
        "gene": "NUDT15",
        "variant": "*3",
        "stated": false,
        "why": "Main NUDT15 risk allele, ~7-11% in Indians (PMID 29470173)"
      },
      {
        "gene": "UGT1A1",
        "variant": "*28",
        "stated": false,
        "why": "TA-repeat allele, common in South Asians"
      },
      {
        "gene": "UGT1A1",
        "variant": "*6",
        "stated": true,
        "why": "East Asian allele; reported at low frequency in India"
      },
      {
        "gene": "TPMT",
        "variant": "*3C",
        "stated": true,
        "why": "Most common TPMT variant in South Asians"
      },
      {
        "gene": "CYP2C19",
        "variant": "*2",
        "stated": true,
        "why": "Common no-function allele in South Asians"
      },
      {
        "gene": "CYP2C19",
        "variant": "*17",
        "stated": true,
        "why": "Increased-function allele"
      }
    ],
    "warnings": [
      "Targeted genotyping - only listed variants assayed; variants outside this panel cannot be excluded.",
      "NUDT15 *1/*1 reflects no variant detected on targeted panel; untested variants cannot be excluded.",
      "Synthetic document generated for software benchmarking. Not a real patient or laboratory."
    ]
  },
  "review": null,
  "pharmcat": {
    "version": "3.4.0",
    "data": "2026-07-13-11-40"
  },
  "note": "Research record. Not medical advice."
}