Title Image

Blog

Home  /  Hematology   /  Diamond-Blackfan anemia: gene panel

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.