Our diabetes and obesity panel are recommended for patients with abnormalities in glucose metabolism, such as hyper insulinemic hypoglycemia, diabetes neonatal, MODY, diabetes in adults, and familial hypercholesterolemia as well as for patients displaying insulin resistance, from mild to the severe spectrum (Donohue syndrome), and for patients with familial hyperinsulinism. Prader-Willi syndrome can be detected with our diabetes and obesity panel, however, other disorders caused by imprinting errors or uniparental disomy such as 6q24-related transient neonatal diabetes mellitus and Beckwith-Wiedemann syndrome are not included in this panel.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:625 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

Our Monogenic diabetic panel is recommended for patient with abnormalities in glucose metabolism such as hyperinsulinemia hypoglycemia, MODY, diabetes in adults and familial hypercholesterolemia, as well as for patients displaying insulin resistance, from mild to the severe spectrum (Donohue syndrome), and for patients with familial hyperinsulinism. Disorders caused by imprinting errors or uniparental disomy, such as 6q24-related transient neonatal diabetes mellitus and Beckwith Wiedemann syndrome, are not detected with this panel.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:54 ABCC8, AIRE, AKT2, ALMS1, APPL1, BLK, CISD2, CNOT1, CP, DCAF17, DNAJC3, DYRK1B, EIF2AK3, EIF2B1, EIF2S3, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1A, HNF1B, HNF4A, IER3IP1, IL2RA, INS, INSR, ITCH, KCNJ11, KLF11, LRBA, MAFA, NEUROD1, NEUROG3, NKX2-2, PAX4, PAX6, PCBD1, PDX1, PIK3R1, POLD1, PPP1R15B, PTF1A, RFX6, SLC19A2, SLC29A3, SLC2A2, STAT1, STAT3, TRMT10A, WFS1, ZBTB20, ZFP57, ZMPSTE24

Comprehensive Neonatal Diabetes Mutation Analysis is recommended for patient with abnormalities in glucose metabolism such diabetes neonatal.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:31 AIRE, CNOT1, DOCK8, EIF2AK3, EIF2B1, EIF2S3, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1B, IER3IP1, IL2RA, INS, INSR, KCNJ11, LRBA, MNX1, NEUROD1, NEUROG3, NKX2-2, PDX1, PTF1A, RFX6, SLC19A2, SLC2A2, STAT1, STAT3, WFS1, ZFP57