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MODY: gene panel

Speciality(ies) / Other Speciality(ies)

Endocrinology

Metabolic Diseases

Methodology

NGS

SNS Code

34900

OMIM

Gene Number

15

Test / Mutation List

ABCC8, APPL1, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, SLC16A1

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.