Broj gena
265
TAT (radni dani)
25
Metoda
MLPA, NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
Panel za dijabetes i gojaznost preporučuje se za pacijente sa poremećajima u metabolizmu glukoze, kao što su hiperinzulinemijska hipoglikemija, neonatalni dijabetes, MODY, dijabetes kod odraslih i porodična hiperholesterolemija, kao i za pacijente sa insulinskom rezistencijom, od blagih do teških oblika (Donohueov sindrom), te za pacijente sa porodičnim hiperinzulinizmom. Prader-Willi sindrom može se detektovati panelom za dijabetes i gojaznost, međutim, drugi poremećaji uzrokovani greškama u imprintingu ili uniparentalnom disomijom, kao što su 6q24-povezan tranzitorni neonatalni dijabetes i Beckwith–Wiedemannov sindrom, nisu uključeni u ovaj panel.
Geni
ABCA1, ABCC8, ABCG5, ABCG8, ACAT1, ACSF3, ADCY3, AFF4, AGL, AGRP, AIP, AIRE, AKT2, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG3, ALG6, ALG8, ALG9, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, APPL1, AQP2, ARL13B, ARL6, ARMC5, ATP6V0A2, AVP, AVPR2, B4GALT1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, BLK, CANT1, CC2D2A, CCDC28B, CEL, CEP164, CEP19, CEP290, CETP, CFAP418, CHD2, CISD2, CNOT1, COG1, COG4, COG5, COG6, COG7, COG8, CP, CPE, CREBBP, CUL4B, CYP27A1, DCAF17, DNAJC3, DOLK, DPM1, DPM2, DPM3, DYRK1B, EHMT1, EIF2AK3, EIF2B1, EIF2S3, ENO3, ENPP1, EPM2A, FBP1, FOXP3, G6PC1, GAA, GATA6, GBE1, GCK, GCKR, GH1, GHR, GHRHR, GHRL, GLI3, GLIS3, GLUD1, GMPPA, GNAS, GNE, GPC3, GPD1, GPIHBP1, GYS1, GYS2, H6PD, HADH, HEXA, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HSD11B1, IER3IP1, IFT172, IFT27, IGF1R, INPP5E, INS, INSR, ITCH, KCNJ11, KIDINS220, KIF7, KLF11, KMT2C, KSR2, LAMP2, LARGE1, LAS1L, LDHA, LDLR, LDLRAP1, LEP, LEPR, LIPA, LIPC, LIPE, LMF1, LMNA, LPL, LZTFL1, MAGEL2, MAN1B1, MC3R, MC4R, MCHR1, MEGF8, MGAT2, MKKS, MKRN3, MKS1, MOGS, MPDU1, MPI, MPV17, MRAP2, MTNR1B, MTTP, MYO5A, MYO7A, MYT1L, NDN, NEUROD1, NEUROG3, NGLY1, NHLRC1, NKX2-2, NPHP1, NPHP3, NR0B2, NSD1, NTRK2, OFD1, OXCT1, PAX4, PAX6, PC, PCBD1, PCK1, PCNT, PCSK1, PCSK9, PDE11A, PDE4D, PDX1, PFKM, PGAM2, PGK1, PGM1, PHF6, PHIP, PHKA1, PHKA2, PHKB, PHKG2, PIK3R1, PMM2, PNPLA6, POLD1, POMC, PPARG, PPP1R15B, PRKAG2, PRKAR1A, PRMT7, PROM1, PRPH2, PTEN, PTF1A, PYGL, PYGM, RAB23, RAI1, RBCK1, RDH5, RFT1, RFX6, RHO, RLBP1, RPGRIP1L, RPS6KA3, SDCCAG8, SETD2, SH2B1, SIM1, SLC16A1, SLC19A2, SLC29A3, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SNRPN, SPG11, SRD5A3, SSR4, STAT1, STAT3, TBX3, THOC2, THRA, TMEM165, TMEM67, TRAF3IP1, TRAPPC9, TRIM32, TRMT10A, TTC21B, TTC8, TUSC3, UCP2, UCP3, VPS13B, WFS1, XRCC4, XYLT1, ZBTB20, ZFP57, ZMPSTE24, ZNF711