Table 1 Common tumor testing methods.

From: Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

Testing method

Sample required

PGPV covered in the test

Confirmatory germline testing

Tumor-only testing

Tumor specimen

May be inferred

Yes

Tumor-normal paired testing with germline variant subtraction

Both tumor and nontumor specimens

Masked

Unlikely

Tumor-normal paired testing with a set of cancer predisposition genes in germline data deliberately analyzed

Both tumor and nontumor specimens

Detected based on test design

No if germline results validated as a germline test

  1. PGPV presumed germline pathogenic variant.
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