Module overview
Section 2 of 6 · Open sections

Required section · Section 2 of 6

Build the result in four layers

The first layer is the assay observation, such as a targeted CYP2D6 variant call. The second is allele assignment and phasing into a diplotype, for example *1/*4. The third is a predicted phenotype derived from the diplotype using a stated translation system.

For CYP2D6, allele function values are summed into a unitless activity score, with duplicated alleles multiplied by copy number. Under the current standardized CPIC thresholds, an activity score of 0 is poor metabolizer, more than 0 to less than 1.25 is intermediate metabolizer, 1.25 to 2.25 is normal metabolizer, and more than 2.25 is ultrarapid metabolizer. This phenotype is a genotype-derived grouping, not a direct enzyme-activity measurement.

The fourth layer is an external gene-drug interpretation with a named source and version. Keep that layer visibly separate from the laboratory result because guidance and labels change. State which layer each sentence belongs to before it reaches the report.

Four-layer reporting sequence

  1. Detect

    Call validated targets and quality status from the assay.

  2. Assign

    Convert detected variants into phased star-allele haplotypes and diplotype when supported.

  3. Translate

    Apply the declared current activity-score or phenotype translation.

  4. Contextualize

    Link an external, versioned guideline or label without issuing a medication order.

Knowledge checks

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Knowledge check 1

Under the stated current CYP2D6 thresholds, what phenotype corresponds to activity score 1.0?

Choose one option.

Knowledge check 2

Which are laboratory result layers before a gene-drug recommendation is applied?

Choose at least 3 options.

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