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.