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Hypophosphatemic rickets: gene panel

Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

NGS

SNS Code

34900

OMIM

Gene Number

11

Test / Mutation List

ALPL, CLCN5, DMP1, ENPP1, FAH, FGF23, KL, PHEX, SLC34A1, SLC34A3, VDR

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.