GEN_Molecular karyotyping (chromosomal microarray analysis, CGH) postnatally for children and adults, Illumina 300K

GEN_Narrow genetic panel (NGS, as described on the blueprintgenetics website)

GEN_Neuro-ophthalmic genetic panel (NGS, 97 genes, medium, OP1301)

GEN_Premature Ovarian Depletion Gene Panel (NGS, 16 genes, small, EN0901)

GEN_Retinal Dystrophy Gene Panel (NGS, 351 genes, large, OP0801)

GEN_Retinitis Pigmentosa Gene Panel (NGS, 159 genes, large, OP0901)

GEN_Single Gene Sequencing (Blueprintgenetics)

GEN_Usher syndrome genetic panel (NGS, 21 genes, small, OP1101)

GEN_Whole exome family sequencing (WES DUO, proband + family member, Blueprint)

GEN_Whole Exome Family Sequencing (WES TRIO, proband + 2 family members, Blueprint WE0601)