targeted genetic testing
Sequencing experiments were performed on the Ion Torrent S5 platform (Thermo Fisher Scientific). Sequence data analysis was performed with the Ion Reporter v5.18 software (Thermo Fisher Scientific). Variant validation was performed by Sanger sequencing on the 3730 Genetic Analyzer platform (Thermo Fisher Scientific). Variants with a minor allele frequency >0.01 were filtered out. Only nonsynonymous variants and splice site variants were retained. A visual analysis of the reads including candidate variants mapped against the reference genome (version GRCh37/hg19) was performed on the Integrative Genome Viewer software (IGV, https://software.broadinstitute.org/software/igv/). Variants were classified according to the American College Of Medical Genetics And Genomics (ACMG) guidelines