Table 8 Key element Group 4 (results).

From: Evaluation of current genetic testing reports in German-speaking countries with regard to secondary use and future electronic implementation

4. Results

Reports

% complete

% partial

% missing

Variant(s) (not) detected/confirmeda

63

61 (96.8%)

2 (3.2%)

0 (0.0%)

Variant description, gene (HGVS)b

51

51 (100.0%)

0 (0.0%)

0 (0.0%)

Variant description, protein (HGVS)b

51

50 (98.0%)

1 (2.0%)

0 (0.0%)

Zygosity [g] or percentage [s]c

61

58 (95.1%)

0 (0.0%)

3 (4.9%)

  1. [g] germline, [s] somatic analysis.
  2. aAmong all (96): three cases were of contradicting reports, five were unclear if “no pathogenic mutation found” was the same as “no mutation found”.
  3. bNot taken into account for CAG-repeat tests (ten reports) as well as for two negative reports.
  4. cNot taken into account for two negative reports.
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