Pulmonary disease (extended panel): gene panel
Speciality(ies) / Other Speciality(ies)
Pneumology
Pediatrics
Methodology
NGS, with CNVs analysis (optional)
SNS Code
34900
OMIM
–
Gene Number
67
Test / Mutation List
ABCA3, CCDC39, CCDC40, CFTR, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, CSF2RA, CSF2RB, DKC1, DNAAF1, DNAAF2, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, EDN3, EFEMP2, ELMOD2, ELN, FBLN5, FLCN, FOXF1, GAS8, GLRA1, HPS1, HPS4, ITGA3, LTBP4, MECP2, NAF1, NF1, NKX2-1, NME8, PARN, PHOX2B, PIH1D3, RAPSN, RET, RSPH3, RSPH4A, RSPH9, RTEL1, SCN4A, SCNN1A, SCNN1B, SERPINA1, SFTPA1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC6A5, SLC7A7, SMPD1, STAT3, TERC, TERT, TINF2, TSC1, TSC2, ZEB2
TAT
4 to 5 months
Sample Type
Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.