Fig. 2.

Results after 19 months of CTNS screening. Within 19 months of screening, 291, 905 samples were analyzed. 291,023 (99.7%) were negative for any of the three variants in the qPCR assay and reported immediately. 656 (0.22%) samples were positive for a heterozygous 57 kb deletion, 84 (0.028%) showed inconclusive results and were further analyzed by sequencing. 81 (0.027%) and 59 (0.02%) samples were heterozygous for c.18_21del GACT or c.926dupG and sequenced as well. Three potential cystinosis patients could be identified. Two with a homozygous deletion of the 57 kb region, the other sample compound heterozygous 57 kb del with a second variant, previously described as disease causing. All others were reported without pathological findings