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

Table 3

Errors performed by laboratories in genotyping detection and reporting.

CEQ scheme	𝑁 of laboratories performing errors	𝑁 of samples	Type of error	Error percentage/scheme
CF	2/43	6/172	Genotyping error: samples swap	4%
	1/43	1/172	Genotyping error: mutation correctly detected but not correctly reported (c.3484C>T instead of c.3846G>A)
BT	1/17	1/68	Genotyping error: mutation correctly detected but not correctly reported (c.118C>T was reported in heterozygous instead of homozygous status)	1,5%
FX	5/15	17/60	Information about genotype not adequate: number of triplets absent or not clearly reported	28%
APC	1/5	1/20	Information about genotype not adequate: gene variant not reported	5%

CF: Cystic Fibrosis; BT: Beta Thalassemia; FX: Fragile X Syndrome; APC: Familial Polyposis Adenomatous Coli.