The invention discloses a kit used for screening genetic liver diseases. The kit is high in detection flux, sensitivity, and specificity. The genetic liver diseases comprise progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, congenital bile acid synthesis defect, idiopathic bile acid malabsorption, Dubin-Johnson syndrome, hereditary hemochromatosis, alpha1 antitrypsin deficiency, glycogen storage disease, autosomal recessive polycystic kidney disease, Budd-Chiari syndrome, and the like. 39 genes, including ATP8B1, ABCB11, ABCB4, TJP2, NR1H4, HSD3B7, AKR1D1, CYP7B1, AMACR, ABCD3, SLC10A2, ABCC2, HFE, TFR2, SERPINA1, G6PC, SLC37A4, AGL, PYGL, SLC40A1, PKHD1, F5, GYS2, VIPAS39, SLC25A13, JAG1, NOTCH2, PHKA2, PHKB, PHKG2, PHKA1, ALAD, HAMP, HFE2, SMPD1, ATP7B, ABCA1, NPC2, and NPC1, are detected in screening of genetic liver diseases. The kit comprises targeting capture probes SEQ NO:1-SEQ NO:722 targeting at all the exons of the 39 genes, and the kitis used for gene detection.