Abstract:

：Objective To evaluate the performance of automatic genetic screening processor（GSP）for neonatal screening. Methods According to the Clinical and Laboratory Standards Institute （CLSI）EP15-A2 document,thyroid stimulating hormone（TSH）,17-OH-progesterone（17-OHP）,phenylalanine（Phe） and glucose-6-phosphate dehydrogenase（G6PD） were determined in neonatal screening for congenital hypothyroidism（CH）,congenital adrenal hyperplasia（CAH）,phenylketonuria（PKU） and G6PD deficiency. The precisions,accuracies and linear ranges of 4 indices were verified. The results were compared with common methods （fluorescence enzyme immunoassay for TSH and 17-OHP and fluorescence assay for Phe and G6PD）. Results The within-run imprecision and total imprecision were acceptable,and were similar to those published by manufacturers. The biases were <1/2 allowable total error （TEa） from -8.37% to 12.96%,comparing with the neonatal screening quality assurance program of the U. S. Centers for Disease Control and Prevention（CDC）. The b of linear regression equation was 0.83-1.69,and r² was >0.95,which was above the manufacturers declared（r²≥0.90）. The results between GSP and the common methods had good consistency （Kappavalues were 0.83,0.73,0.93 and 0.97,P<0.001）and high correlation（r =0.97,0.94,0.99 and 0.91,P<0.001）. Conclusions The precision,accuracy and linear range of GSP have been achieved the performance of manufacturers' declaration and could be used for neonatal screening.

Key words: Automatic genetic screening processor, Thyroid stimulating hormone, Phenylalanine, 17-OH-progesterone, Glucose-6-phosphate dehydrogenase