{
  "record": {
    "id": "952eff776c4d",
    "label": "IndiPGx-Read H-r08",
    "cohort": "demo",
    "source": "report",
    "createdAt": "2026-10-30T06:28:07.323Z"
  },
  "calls": [
    {
      "gene": "CYP2C19",
      "diplotype": "*2/*17",
      "phenotype": "Intermediate Metabolizer",
      "source": "OUTSIDE"
    },
    {
      "gene": "CYP2D6",
      "diplotype": "*4/*10",
      "phenotype": "Intermediate Metabolizer",
      "activityScore": "0.25",
      "source": "OUTSIDE"
    },
    {
      "gene": "DPYD",
      "diplotype": "c.1679T>G (*13)/c.1905+1G>A (*2A)",
      "phenotype": "Poor Metabolizer",
      "activityScore": "0.0",
      "source": "OUTSIDE"
    },
    {
      "gene": "NUDT15",
      "diplotype": "*1/*3",
      "phenotype": "Intermediate Metabolizer",
      "source": "OUTSIDE"
    },
    {
      "gene": "TPMT",
      "diplotype": "*1/*3A",
      "phenotype": "Intermediate Metabolizer",
      "source": "OUTSIDE"
    },
    {
      "gene": "UGT1A1",
      "diplotype": "*1/*28",
      "phenotype": "Intermediate Metabolizer",
      "source": "OUTSIDE"
    }
  ],
  "extract": {
    "genes": [
      {
        "activityScore": "0",
        "diplotype": "c.1905+1G>A/c.1679T>G",
        "gene": "DPYD",
        "phenotype": "Poor metabolizer",
        "verbatim": "c.1905+1G>A (*2A) heterozygous; c.1679T>G (*13) heterozygous Poor metabolizer (activity score 0)"
      },
      {
        "activityScore": "",
        "diplotype": "*2/*17",
        "gene": "CYP2C19",
        "phenotype": "Intermediate metabolizer",
        "verbatim": "*2/*17 Intermediate metabolizer"
      },
      {
        "activityScore": "0.25",
        "diplotype": "*4/*10",
        "gene": "CYP2D6",
        "phenotype": "Intermediate metabolizer",
        "verbatim": "*4/*10 Intermediate metabolizer (activity score 0.25)"
      },
      {
        "activityScore": "",
        "diplotype": "*1/*28",
        "gene": "UGT1A1",
        "phenotype": "Intermediate metabolizer",
        "verbatim": "*1/*28 (TA6/TA7) Intermediate metabolizer"
      },
      {
        "activityScore": "",
        "diplotype": "*1/*3",
        "gene": "NUDT15",
        "phenotype": "Intermediate metabolizer",
        "verbatim": "*1/*3 Intermediate metabolizer"
      },
      {
        "activityScore": "",
        "diplotype": "*1/*3A",
        "gene": "TPMT",
        "phenotype": "Intermediate metabolizer",
        "verbatim": "*1/*3A (*3B + *3C in cis) Intermediate metabolizer"
      }
    ],
    "labName": "Synthetic Genomics Lab (Kochi)",
    "methodNotes": "Method: targeted genotyping by real-time PCR. Only the listed variants are assayed; variants outside this panel cannot be excluded.",
    "patientRef": "",
    "reportDate": "23 Oct 2026",
    "testedVariants": [
      {
        "gene": "DPYD",
        "variant": "rs3918290 (*2A)"
      },
      {
        "gene": "DPYD",
        "variant": "rs55886062 (*13)"
      },
      {
        "gene": "DPYD",
        "variant": "rs67376798 (c.2846A>T)"
      },
      {
        "gene": "DPYD",
        "variant": "rs75017182 (HapB3)"
      },
      {
        "gene": "DPYD",
        "variant": "rs1801265 (c.85T>C)"
      },
      {
        "gene": "CYP2C19",
        "variant": "*2"
      },
      {
        "gene": "CYP2C19",
        "variant": "*3"
      },
      {
        "gene": "CYP2C19",
        "variant": "*17"
      },
      {
        "gene": "CYP2D6",
        "variant": "*2"
      },
      {
        "gene": "CYP2D6",
        "variant": "*3"
      },
      {
        "gene": "CYP2D6",
        "variant": "*4"
      },
      {
        "gene": "CYP2D6",
        "variant": "*5"
      },
      {
        "gene": "CYP2D6",
        "variant": "*6"
      },
      {
        "gene": "CYP2D6",
        "variant": "*10"
      },
      {
        "gene": "CYP2D6",
        "variant": "*41"
      },
      {
        "gene": "UGT1A1",
        "variant": "TA repeat rs3064744 (*28)"
      },
      {
        "gene": "UGT1A1",
        "variant": "rs4148323 (*6)"
      },
      {
        "gene": "NUDT15",
        "variant": "rs116855232 (*3)"
      },
      {
        "gene": "TPMT",
        "variant": "*2"
      },
      {
        "gene": "TPMT",
        "variant": "*3A"
      },
      {
        "gene": "TPMT",
        "variant": "*3B"
      },
      {
        "gene": "TPMT",
        "variant": "*3C"
      }
    ],
    "warnings": [
      "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."
    ]
  },
  "quality": {
    "identifierRemoved": true,
    "unread": [],
    "coverage": [
      {
        "gene": "DPYD",
        "variant": "HapB3",
        "stated": true,
        "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": true,
        "why": "European tier-1 variant; rare in Indians (PMID 40810747)"
      },
      {
        "gene": "DPYD",
        "variant": "*13",
        "stated": true,
        "why": "Tier-1 no-function variant (PMID 39032821)"
      },
      {
        "gene": "DPYD",
        "variant": "c.2846A>T",
        "stated": true,
        "why": "Tier-1 variant; near-absent in Indians (PMID 40810747)"
      },
      {
        "gene": "NUDT15",
        "variant": "*3",
        "stated": true,
        "why": "Main NUDT15 risk allele, ~7-11% in Indians (PMID 29470173)"
      },
      {
        "gene": "UGT1A1",
        "variant": "*28",
        "stated": true,
        "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": [
      "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."
    ]
  },
  "review": null,
  "pharmcat": {
    "version": "3.4.0",
    "data": "2026-07-13-11-40"
  },
  "note": "Research record. Not medical advice."
}