Research Article

The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011)

Table 2

General evaluation criteria: items common to all schemes taken into account for assessment.

Genotyping
 Quality of raw data
 Lack of data legend
 Lack of DNA variants detection
 Correctness of the nomenclature
 Completeness of technical information
 Correctness/lack of detection rate
 Problems with counting of triplets (X-Fra)
 Lack of indication for advanced investigations when
 appropriate
Interpretation
 Lack and/or inaccuracy of important information on the
 pathogenic role of mutation and/or reproductive risk
 (not for APC), and/or other important information.
 Lack of information about test validity
 Lack of genetic counseling indication if necessary
Reporting
 General inadequacy of the report
 Inadequate language
 Lack of laboratory heading
 Lack of identification of the patient
 Clerical error in identification of the patient
 Lack of gender indication
 Lack of geographical origin of the patient where necessary
 Lack of identification number of sample
 Lack of report title
 Lack of reason for testing
 Lack of sample source
 Lack of primary sample type
 Lack of signature of the person releasing the report
 Lack of date primary sample collection and release of the
 report
 Lack of indication of certification/accreditation of laboratory
 Lack of page numbering