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Neurodegeneration with brain iron accumulation disorders (NBIA): gene panel

Speciality(ies) / Other Speciality(ies)

Neurology

Methodology

NGS

SNS Code

34900

OMIM
Gene Number

10

Test / Mutation List

ATP13A2, C19orf12, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45

TAT

3 to 4 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.