Neonatology

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Product	Type of test	Genes
Osteogenesis imperfecta	NGS Panel	COL1A2, COL1A1, CRTAP, LEPRE1
Persistent Müllerian duct syndrome type 1	Gene NGS	AMH
Persistent Müllerian duct syndrome type 2	Gene NGS	AMHR2
Pulmonary veno-occlusive disease	Gene NGS	EIF2AK4
Situs ambiguus	Gene NGS	LEFTY2
Sudden Death, Panel	Targeted Exome	ABCC9,ACTC ,ACTC1,AKAP9 ,ANK2,CACNA1C,CACNA1D,CACNA2D1,CACNB2,CACNB2B,CALM1,CALM2,CALM3,CASQ2,CAV3,DES,DMD , DSC2, DSG2, DSP, EMD, FGF12, FHL2, FLNC, GAA, GJA5, GLA, GPD1L, HCN4, HFE, IRX3, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, KCNQ2, LAMP2, LDB3, LMNA, MURC, MYBPC3, MYH6,MYH7,MYL2,MYL3,NKX2-5, NOS1AP, NPPA, PKP2, PLN, PRKAG2, PTRF, RANGRF, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLMAP, SNTA1, SYNE1, SYNE2, TAZ,TBX5,TMEM43,TNNC1,TNNI3,TNNI3K,TNNT2,TPM1,TRDN,TRPM4,TTR
Waardenburg syndrome	NGS Panel	PAX3, MITF, SOX10, EDNRB, EDN3 y SNAI2
Waardenburg syndrome, type 1	Gene NGS	PAX3
Walker-Warburg syndrome	Gene NGS	POMT1
Walker-Warburg syndrome, POMT2-related	Gene NGS	POMT2

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