Table 1. Genetics testing summary of a seven-year-old boy with frequent hypoglycemia.
Test Name | Genes | Result |
---|---|---|
Molecular genetic analysis of known familial hyperinsulinism genes by next-generation sequencing | ABCC8, KCNJ11, GCK, GLUD1, HADH, HNF4A, SLC16A1, and UCP2 | Negative |
Comprehensive hereditary cancer panel genetic analysis (mainly for MEN1) | Sequence analysis of genes associated with hereditary cancer: AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CYLD, DDB2, DICER1, DIS3L2, DKC1, EGFR, ELANE, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, EXO1, EXT1, EXT2, EZH2, FANCA, FANCB, FANCC, FANCD2*, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GATA2, GPC3, GREM1, HNF1A, HOXB13, HRAS, KIT, KRAS, MAX, MEN1, MET, MITF, MLH1, MLH3, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, NF2, NSD1, PALB2, PHOX2B, PMS1, PMS2, POLD1, POLE, PPM1D, PRF1, PRKAR1A, PTCH1, PTEN, PTPN11, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCB1, STK11, SUFU, TERC, TERT, TINF2, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC, and XRCC2 |
Negative |