Diamond-Blackfan anemia: gene panel
Speciality(ies) / Other Speciality(ies)
Hematology
Methodology
NGS, with CNVs analysis
SNS Code
34900
OMIM
–
Gene Number
20
Test / Mutation List
GATA1, RPL5, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL36, RPS7, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, TSR2
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.