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

Table 4

Information most commonly missing in interpretation of results.

Incomplete interpretation
Not mentioned information	CF (105)	BT (39)	FX (41)	APC (8)
Analytical sensitivity and specificity of procedures	88%	89%	20%	100%
Detection rate absent or incorrect	60%	69%	93%	0%
Indication for genetic counseling	13%	28%	20%	50%
Reproductive risk or request to test the partner	52%	28%	0%	—
Request to test parents to confirm homozygous nature of mutation	0%	18%	—	—

CF: Cystic Fibrosis; BT: Beta Thalassemia; FX: Fragile X Syndrome; APC: Familial Polyposis Adenomatous Coli. The numbers of samples that were reported with incomplete interpretations are indicated in brackets.