PANEL RASOPATIE

PTPN11, SOS1, RAF1, KRAS, BRAF, MAP2K1, MAP2K2, HRAS, SHOC2, CBL (10 genów)

ZESPÓŁ BARDETA-BIEDLA

BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, CEP290, C2ORF86, SDCCAG8, LZTFL1, BBIP1, IFT27, IFT74, C8ORF37, TMEM67 (22 geny)

HIPOGLIKEMIA

GLUD1, HADH, INS, GCK, KCNJ11, SLC16A1, ABCC8 (7 genów)

CUKRZYCA MODY

HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, KCNJ11, APPL1, ABCC8 (14 genów)

CUKRZYCA MONOGENOWA

ABCC8, AIRE, BLK, CEL, EIF2AK3, FOXP3, GATA4, GATA6, GCK, GCKR, GLIS3, GLUD1, HADH, HNF1A, HNF1B, HNF4A, INS, ISL1, KCNJ11, KLF11, MAFA, MAFB, MNX1, NEUROD1, NEUROG3,…