Familial pulmonary fibrosis: gene panel
Speciality(ies) / Other Speciality(ies)
Pneumology
Methodology
NGS, with CNVs analysis
SNS Code
34900
OMIM
–
Gene Number
21
Test / Mutation List
ABCA3, AP3B1, CSF2RA, CSF2RB, DKC1, FOXF1, HPS1, HPS4, MUC5B, NKX2-1, RTEL1, PARN, SLC7A7, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, TERC, TERT, TINF2
TAT
2 to 3 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.