Genetic Testing
BWS testing was performed using methylation sensitive, multiplex
ligation-dependent probe amplification at the 11p15 locus and Sanger
sequencing of CDKN1C.
The gene panel for hypoglycemia, hyperinsulinemia, and ketone metabolism
is a commercially available panel (Blueprint Genetics, Seattle, WA) and
included next-generation sequencing of the following genes: ABCC8,
ACAT1, ACSF3, AGL, AKT2, ALDOA, ALDOB, DIS3L2, ENO3, EPM2A, FBP1, G6PC,
GAA, GBE1, GCK, GLUD1, GPC3, GYG1, GYS1, GYS2, HADH, HMGCL, HMGCS2,
HNF1A, HNF4A, INSR, KCNJ11, KDM6A, KMT2D, LAMP2, LDHA, MPV17, NHLRC1,
NSD1, OXCT1, PC, PCK1, PDX1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2,
PHKB, PHKG2, PIK3CA, PIK3R2, PRKAG2, PRKAG3, PTF1A, PYGL, PYGM, RBCK1,
SLC16A1, SLC2A2, SLC37A4 , and UCP2.