Broj gena
101
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a i analizu ekspanzije ponavljanja.
Uzorak
Puna krv
Opis
Pulmonalni panel uključuje gene za dijagnozu centralne hipoventilacije, disfunkcije metabolizma surfaktanta, plućne hipertenzije, među ostalim plućnim bolestima.
Geni
ABCA3, ABCC8, ACVRL1, AP3B1, AQP1, ASCL1, BLOC1S3, BMPR1B, BMPR2, CAV1, CCDC39, CCDC40, CFAP300, CFTR, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, CSF2RB, DKC1, DNAAF1, DNAAF2, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAL1, DOCK8, DRC4, DTNBP1, EDN3, EFEMP2, EIF2AK4, ELN, ENG, FAM111B, FBLN5, FBN1, FLCN, FOXF1, GDF2, GDNF, GLRA1, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA3, KCNA5, KCNK3, MECP2, NEK10, NF1, NFU1, NKX2-1, NME8, NOP10, NOTCH3, PARN, PHOX2A, PHOX2B, POLD1, RAPSN, RASA1, RET, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, SARS2, SCN4A, SCNN1A, SCNN1B, SCNN1G, SERPINA1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC6A5, SLC7A7, SMAD4, SMAD9, SMPD1, SOX17, STAT3, STING1, STRA6, TBX4, TERT, TINF2, TSC1, TSC2, ZEB2