These findings included actionable genes associated with hereditary cancer in 2 patients (BRCA2 and BRIP1 genes) and carrier states of autosomal recessive (AR) diseases in 19 patients (GBA, PAH, TG, PKDH1, ACADM, USH2A, PMM2, ATP6V0A2, PRKN, ALDOB, DHCR7, IDUA, AHI1, XPC, PTS, SLC17A5, and RNASEH2B genes). Here, DHCR7 is linked to pulmonary arterial hypertension.