Maturity-onset Diabetes Of The Young; Mody

Description

Maturity-onset diabetes of the young is an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but represents genetic, metabolic, and clinical heterogeneity (Vaxillaire and Froguel, 2008). Genetic Heterogeneity of MODYMODY1 (OMIM ) is caused by heterozygous mutation in the hepatocyte nuclear factor-4-alpha gene (HNF4A ) on chromosome 20.MODY2 (OMIM ) is caused by heterozygous mutation in the glucokinase gene (GCK ) on chromosome 7.MODY3 (OMIM ) is caused by heterozygous mutation in the hepatocyte nuclear factor-1alpha gene (HNF1A ) on chromosome 12q24.2.MODY4 (OMIM ) is caused by heterozygous mutation in the pancreas/duodenum homeobox protein-1 gene (PDX1 ) on chromosome 13q12.1.MODY5 (OMIM ) is caused by heterozygous mutation in the gene encoding hepatic transcription factor-2 (TCF2 ) on chromosome 17cen-q21.3.MODY6 (OMIM ) is caused by heterozygous mutation in the NEUROD1 gene (OMIM ) on chromosome 2q32.MODY7 (OMIM ) is caused by heterozygous mutation in the KLF11 gene (OMIM ) on chromosome 2p25.MODY8 (OMIM ), or diabetes-pancreatic exocrine dysfunction syndrome, is caused by heterozygous mutation in the CEL gene (OMIM ) on chromosome 9q34.MODY9 (OMIM ) is caused by heterozygous mutation in the PAX4 gene (OMIM ) on chromosome 7q32.MODY10 (OMIM ) is caused by heterozygous mutation in the insulin gene (INS ) on chromosome 11p15.5.MODY11 (OMIM ) is caused by heterozygous mutation in the BLK gene (OMIM ) on chromosome 8p23.MODY13 (OMIM ) is caused by heterozygous mutation in the KCNJ11 gene (OMIM ) on chromosome 11p15.MODY14 (OMIM ) is caused by heterozygous mutation in the APPL1 gene (OMIM ) on chromosome 3p14.

Clinical Features

Phenotypes and symptoms related to Maturity-onset Diabetes Of The Young; Mody

  • Hypertension
  • Tics
  • Diabetes mellitus
  • Retinopathy
  • Type II diabetes mellitus
  • Insulin resistance
  • Overweight
  • Maturity-onset diabetes of the young
  • Flushing

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Maturity-onset Diabetes Of The Young; Mody Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Hyperinsulinism Evaluation.

By Athena Diagnostics Inc in United States.

KCNJ11, ABCC8, GLUD1, GCK
Specificity
75 %
Genes
24 %
KCNJ11 (NDM) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

KCNJ11
Specificity
100 %
Genes
8 %
Neonatal Diabetes Mellitus Evaluation.

By Athena Diagnostics Inc in United States.

PDX1, INS, KCNJ11, ABCC8, GCK
Specificity
100 %
Genes
39 %
KCNJ11 (CH) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

KCNJ11
Specificity
100 %
Genes
8 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
8 %
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy.

By Athena Diagnostics Inc in United States.

TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, PIGN, GRIN1, NRXN1, PIGA, SCN8A, WDR45, GNAO1, SZT2 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
8 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
8 %
Maturity-Onset Diabetes of the Young.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, IER3IP1, CP, FOXP3, HNF4A, PDX1, INS, KCNJ11, ABCC8, CISD2 , (...)

View the complete list with 5 more genes
Specificity
44 %
Genes
85 %
Level 1: Congenital Hyperinsulinisim Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States.

KCNJ11, ABCC8, GLUD1, GCK
Specificity
75 %
Genes
24 %
Level 2: Expanded Congenital Hyperinsulinism Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States.

HADH, KCNJ11, ABCC8, GLUD1, GCK, SLC16A1
Specificity
50 %
Genes
24 %
Maturity-onset Diabetes of the Young Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States.

INSR, BLK, KLF11, PAX4, AKT2, HNF4A, PDX1, INS, KCNJ11, CEL, ABCC8, GCK, HNF1B, NEUROD1, HNF1A
Specificity
80 %
Genes
93 %
MODY Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

APPL1, BLK, KLF11, PAX4, HNF4A, PDX1, INS, KCNJ11, CEL, ABCC8, GCK, HNF1B, NEUROD1, HNF1A
Specificity
93 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

ZFP57, ZBTB20, TRMT10A, DNAJC3, MNX1, NKX2-2, DUT, IL2RA, APPL1, LRBA, INSR, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6 , (...)

View the complete list with 21 more genes
Specificity
27 %
Genes
85 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel.

By Genetic Services Laboratory University of Chicago in United States.

ZFP57, ZBTB20, TRMT10A, DNAJC3, MNX1, NKX2-2, DUT, IL2RA, APPL1, LRBA, INSR, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6 , (...)

View the complete list with 21 more genes
Specificity
27 %
Genes
85 %
Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism.

By Genetic Services Laboratory University of Chicago in United States.

KCNJ11, ABCC8, GCK
Specificity
100 %
Genes
24 %
KCNJ11 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

KCNJ11
Specificity
100 %
Genes
8 %
KCNJ11 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

KCNJ11
Specificity
100 %
Genes
8 %
KCNJ11 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

KCNJ11
Specificity
100 %
Genes
8 %
Comprehensive Neonatal Diabetes Mutation Analysis.

By Genetic Services Laboratory University of Chicago in United States.

HYMAI, PLAGL1, ZFP57, MNX1, NKX2-2, EIF2AK3, GATA6, GATA4, FOXP3, PDX1, INS, KCNJ11, ABCC8, GCK
Specificity
36 %
Genes
39 %
Comprehensive Familial Hyperinsulinism Panel.

By Genetic Services Laboratory University of Chicago in United States.

INSR, HADH, KDM6A, KMT2D, HNF4A, KCNJ11, ABCC8, PMM2, GLUD1, UCP2, PGM1, GCK, SLC16A1, HNF1A
Specificity
36 %
Genes
39 %
MODY Panel.

By Genetic Services Laboratory University of Chicago in United States.

APPL1, BLK, KLF11, PAX4, HNF4A, PDX1, INS, KCNJ11, CEL, ABCC8, GCK, HNF1B, NEUROD1, HNF1A
Specificity
93 %
Genes
100 %
Neonatal Diabetes Mellitus Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago in United States.

ZFP57, EIF2AK3, FOXP3, PDX1, INS, KCNJ11, ABCC8, GCK
Specificity
63 %
Genes
39 %
Neonatal Diabetes Mellitus Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ZFP57, MNX1, NKX2-2, EIF2AK3, GATA6, GATA4, FOXP3, PDX1, INS, KCNJ11, ABCC8, GCK
Specificity
42 %
Genes
39 %
Epilepsy Panel - Comprehensive.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

PSAT1, CERS1, PSPH, NECAP1, NEU1, ZEB2, CNTNAP2, TCF4, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, DOCK7, DNM1, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
8 %
KCNJ11 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

KCNJ11
Specificity
100 %
Genes
8 %
KCNJ11. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

KCNJ11
Specificity
100 %
Genes
8 %
KCNJ11. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

KCNJ11
Specificity
100 %
Genes
8 %
Permanent neonatal diabetes mellitus (deletion/duplication analysis of KCNJ11 gene).

By CGC Genetics in Portugal.

KCNJ11
Specificity
100 %
Genes
8 %
Hyperinsulinemic hypoglycemia, familial, 2 (deletion/duplication analysis of KCNJ11 gene).

By CGC Genetics in Portugal.

KCNJ11
Specificity
100 %
Genes
8 %
Hyperinsulinemic hypoglycemia, familial, 2 (sequence analysis of KCNJ11 gene).

By CGC Genetics in Portugal.

KCNJ11
Specificity
100 %
Genes
8 %
Permanent neonatal diabetes mellitus (sequence analysis of KCNJ11 gene).

By CGC Genetics in Portugal.

KCNJ11
Specificity
100 %
Genes
8 %
MODY (NGS panel for 13 genes).

By CGC Genetics in Portugal.

BLK, KLF11, PAX4, HNF4A, PDX1, INS, KCNJ11, CEL, ABCC8, GCK, HNF1B, NEUROD1, HNF1A
Specificity
93 %
Genes
93 %
Diabetes mellitus permanent neonatal (NGS panel for 13 genes).

By CGC Genetics in Portugal.

GATA6, PTF1A, GLIS3, RFX6, IER3IP1, SLC19A2, PDX1, INS, KCNJ11, ABCC8, GCK, HNF1B, PAX6
Specificity
39 %
Genes
39 %
Familial hyperinsulinism (NGS panel of 9 genes).

By CGC Genetics in Portugal.

INSR, HADH, HNF4A, KCNJ11, ABCC8, GLUD1, UCP2, GCK, SLC16A1
Specificity
45 %
Genes
31 %
Familial hyperinsulinism (NGS panel of 9 genes).

By CGC Genetics in Portugal.

INSR, HADH, HNF4A, KCNJ11, ABCC8, GLUD1, UCP2, GCK, SLC16A1
Specificity
45 %
Genes
31 %
Islet cell hyperplasia.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

KCNJ11
Specificity
100 %
Genes
8 %
Permanent neonatal diabetes mellitus.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

INS, KCNJ11, ABCC8, GCK
Specificity
100 %
Genes
31 %
Transient neonatal diabetes mellitus 3.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

KCNJ11
Specificity
100 %
Genes
8 %
Permanent neonatal diabetes mellitus.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

INS, KCNJ11, ABCC8, GCK
Specificity
100 %
Genes
31 %
Permanent neonatal diabetes mellitus.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

INS, KCNJ11, ABCC8, GCK
Specificity
100 %
Genes
31 %
Neonatal Diabetes Mellitus.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

ZFP57, PDX1, INS, KCNJ11, ABCC8, GCK
Specificity
84 %
Genes
39 %
KCNJ11-Related Hyperinsulinism.

By Exeter Molecular Genetics Laboratory in United Kingdom.

KCNJ11
Specificity
100 %
Genes
8 %
Congenital Hyperinsulinism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HADH, HNF4A, KCNJ11, ABCC8, GLUD1, UCP2, GCK, SLC16A1, HNF1A
Specificity
56 %
Genes
39 %
KCNJ11-Related Congenital Hyperinsulinism via KCNJ11 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

KCNJ11
Specificity
100 %
Genes
8 %
Maturity Onset Diabetes of the Young (MODY) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

APPL1, BLK, KLF11, PAX4, HNF4A, PDX1, INS, KCNJ11, ABCC8, GCK, HNF1B, NEUROD1, HNF1A
Specificity
93 %
Genes
93 %
KCNJ11.

By Department of Clinical Genetics Odense University Hospital in Denmark.

KCNJ11
Specificity
100 %
Genes
8 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
8 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center in Germany.

UPK2, DACH1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, ANLN, FGF20, ITGA8, PTPRO, EMP2, CHRM3, BICC1, ROBO2, ARHGDIA, AGT , (...)

View the complete list with 97 more genes
Specificity
12 %
Genes
100 %
KCNJ11-Related Hyperinsulinism.

By Bioscientia GmbH Center for Human Genetics in Germany.

KCNJ11
Specificity
100 %
Genes
8 %
Neonatal Diabetes.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

KCNJ11, ABCC8, GCK
Specificity
100 %
Genes
24 %
Hyperinsulinism.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

KCNJ11, ABCC8, GLUD1, GCK
Specificity
75 %
Genes
24 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
24 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...)

View the complete list with 494 more genes
Specificity
2 %
Genes
54 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...)

View the complete list with 494 more genes
Specificity
2 %
Genes
54 %
Diabetes mellitus noninsulin-dependent.

By Centogene AG - the Rare Disease Company in Germany.

KCNJ11
Specificity
100 %
Genes
8 %
Diabetes mellitus transient neonatal 3.

By Centogene AG - the Rare Disease Company in Germany.

KCNJ11
Specificity
100 %
Genes
8 %
Hyperinsulinemic hypoglycemia familial 2.

By Centogene AG - the Rare Disease Company in Germany.

KCNJ11
Specificity
100 %
Genes
8 %
ABCC8-Related Hyperinsulinism.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

HADH, HNF4A, PDX1, KCNJ11, ABCC8, GLUD1, GCK
Specificity
72 %
Genes
39 %
Maturity Onset Diabetes of the Young (MODY).

By Asper Biogene Asper Biogene LLC in Estonia.

ZFP57, BLK, KLF11, PAX4, RFX6, HNF4A, PDX1, INS, KCNJ11, CEL, ABCC8, GCK, HNF1B, NEUROD1, HNF1A
Specificity
80 %
Genes
93 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1 , (...)

View the complete list with 360 more genes
Specificity
3 %
Genes
85 %
Maturity-onset diabetes of the young MODY.

By Health in Code in Spain.

TBC1D4, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, SLC2A2, IER3IP1, FOXP3, HNF4A, PDX1, INS, KCNJ11, CEL, GCK, WFS1 , (...)

View the complete list with 3 more genes
Specificity
48 %
Genes
85 %
Dyslipidemias / Early atherosclerosis.

By Health in Code in Spain.

CH25H, TRIB1, SLC25A40, PPARA, LPA, SLC22A8, CYP3A5, LRP6, INSIG2, CYP3A4, SAR1B, MYLIP, SLCO1B1, PLTP, LIPC, APOC3, AGPAT2, PLIN1, CIDEC, TBC1D4 , (...)

View the complete list with 64 more genes
Specificity
14 %
Genes
85 %
Diabetes mellitus, permanent neonatal.

By Praxis fuer Humangenetik Wien in Austria.

KCNJ11
Specificity
100 %
Genes
8 %
Diabetes mellitus, permanent neonatal.

By Praxis fuer Humangenetik Wien in Austria.

KCNJ11
Specificity
100 %
Genes
8 %
Hyperinsulinemic hypoglycemia, familial, 2.

By Praxis fuer Humangenetik Wien in Austria.

KCNJ11
Specificity
100 %
Genes
8 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
8 %
Diabetes mellitus, permanent neonatal.

By MedGene in Slovakia.

KCNJ11
Specificity
100 %
Genes
8 %
Diabetes mellitus, permanent neonatal.

By MedGene in Slovakia.

KCNJ11
Specificity
100 %
Genes
8 %
Hyperinsulinemic hypoglycemia, familial, 2.

By MedGene in Slovakia.

KCNJ11
Specificity
100 %
Genes
8 %
Diabetes mellitus, Permanent neonatal: KCNJ11 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

KCNJ11
Specificity
100 %
Genes
8 %
Hyperinsulinemic-hypoglycemia type 2, Familial: KCNJ11 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

KCNJ11
Specificity
100 %
Genes
8 %
DIABETES (MODY).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

BLK, KLF11, PAX4, SLC2A2, HNF4A, PDX1, KCNJ11, GCK, HNF1B, NEUROD1, HNF1A
Specificity
82 %
Genes
70 %
Diabetes mellitus, neonatal permanent.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, RFX6, FOXP3, SLC19A2, PDX1, INS, KCNJ11, ABCC8, GCK, WFS1, HNF1B, PAX6, NEUROD1
Specificity
36 %
Genes
47 %
FAMILIAR HYPERINSULINISM AND HYPERAMMONEMIA.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

INSR, HADH, HNF4A, KCNJ11, ABCC8, SLC25A15, OTC, GLUD1, UCP2, GCK, SLC16A1, HNF1A
Specificity
42 %
Genes
39 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
8 %
Endocrine Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GDF9, KISS1, TAC3, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, NSMF, CYP19A1, AGPAT2, CIDEC, TBC1D4, INSR, EIF2AK3, GATA6, PTF1A, GLIS3, BLK, KLF11 , (...)

View the complete list with 37 more genes
Specificity
20 %
Genes
85 %
Endocrine Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GDF9, KISS1, TAC3, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, NSMF, CYP19A1, AGPAT2, CIDEC, TBC1D4, INSR, EIF2AK3, GATA6, PTF1A, GLIS3, BLK, KLF11 , (...)

View the complete list with 37 more genes
Specificity
20 %
Genes
85 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
8 %
Diabetes-Obesity NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NTRK2, SIM1, EIF2AK3, PTF1A, NEUROG3, GLIS3, RFX6, BDNF, GNAS, SDCCAG8, WDPCP, MAGEL2, FOXP3, HNF4A, PDX1, INS, MC4R, KCNJ11, CEL, ABCC8 , (...)

View the complete list with 24 more genes
Specificity
21 %
Genes
70 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
16 %
Hyperinsulinism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

INSR, HADH, HNF4A, PDX1, INS, KCNJ11, ABCC8, GLUD1, UCP2, GCK, SLC16A1
Specificity
55 %
Genes
47 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
16 %
MODY Neonatal Diabetes NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZFP57, INSR, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, HADH, IER3IP1, CP, FOXP3, HNF4A, PDX1, INS , (...)

View the complete list with 10 more genes
Specificity
40 %
Genes
93 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
31 %
KCNJ11.

By Fulgent Genetics Fulgent Genetics in United States.

KCNJ11
Specificity
100 %
Genes
8 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
16 %
MODY Panel.

By Blueprint Genetics in Finland.

BLK, KLF11, PAX4, RFX6, HNF4A, PDX1, INS, KCNJ11, ABCC8, GCK, HNF1B, NEUROD1, HNF1A
Specificity
85 %
Genes
85 %
Comprehensive Monogenic Diabetes Panel.

By Blueprint Genetics in Finland.

ZFP57, INSR, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, SLC2A2, HADH, FOXP3, HNF4A, PDX1, INS, KCNJ11, ABCC8, GLUD1 , (...)

View the complete list with 8 more genes
Specificity
40 %
Genes
85 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...)

View the complete list with 414 more genes
Specificity
2 %
Genes
47 %
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel.

By Blueprint Genetics in Finland.

PRKAG3, PCK1, GYG1, RBCK1, INSR, PTF1A, SLC2A2, HADH, PGK1, PRKAG2, LAMP2, EPM2A, NHLRC1, HNF4A, PDX1, KCNJ11, ABCC8, GBE1, PYGM, PFKM , (...)

View the complete list with 30 more genes
Specificity
12 %
Genes
47 %
Diabetes mellitus, transient neonatal, 3.

By Bioarray in Spain.

KCNJ11
Specificity
100 %
Genes
8 %
Permanent neonatal diabetes mellitus.

By Bioarray in Spain.

KCNJ11
Specificity
100 %
Genes
8 %
CarrierMap.

By Recombine in United States.

VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
16 %
Familial Hyperinsulinism NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

INSR, HADH, HNF4A, KCNJ11, ABCC8, GLUD1, UCP2, GCK, SLC16A1, HNF1A
Specificity
50 %
Genes
39 %
KCNJ11 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

KCNJ11
Specificity
100 %
Genes
8 %
Maturity-Onset Diabetes of the Young NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

BLK, KLF11, PAX4, HNF4A, PDX1, INS, KCNJ11, CEL, ABCC8, GCK, HNF1B, NEUROD1, HNF1A
Specificity
93 %
Genes
93 %
Monogenic Diabetes NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

G6PC2, INSR, EIF2AK3, NEUROG3, GLIS3, BLK, KLF11, PAX4, SLC2A2, HADH, FOXP3, HNF4A, PDX1, INS, KCNJ11, CEL, ABCC8, GLUD1, UCP2, GCK , (...)

View the complete list with 6 more genes
Specificity
47 %
Genes
93 %
DIABETES MELLITUS, NEONATAL.

By Laboratorio de Genetica Clinica SL in Spain.

KCNJ11, ABCC8
Specificity
100 %
Genes
16 %
FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM).

By Laboratorio de Genetica Clinica SL in Spain.

INSR, KCNJ11, ABCC8, GLUD1, GCK
Specificity
60 %
Genes
24 %
MATURITY-ONSET DIABETES OF THE YOUNG (MODY) TYPE 13.

By Laboratorio de Genetica Clinica SL in Spain.

KCNJ11
Specificity
100 %
Genes
8 %
NESIDIOBLASTOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

KCNJ11
Specificity
100 %
Genes
8 %
DIABETES MODY & NEONATAL DIABETES : NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

ZFP57, INSR, EIF2AK3, PTF1A, GLIS3, BLK, KLF11, PAX4, RFX6, SLC2A2, IER3IP1, FOXP3, HNF4A, PDX1, INS, KCNJ11, ABCC8, GLUD1, GCK, HNF1B , (...)

View the complete list with 2 more genes
Specificity
50 %
Genes
85 %
Permanent Neonatal Diabetes Mellitus, Sequencing KCNJ11 Gene.

By Reference Laboratory Genetics in Spain.

KCNJ11
Specificity
100 %
Genes
8 %
Transient Neonatal Diabetes Mellitus Type 3 , Sequencing KCNJ11 Gene.

By Reference Laboratory Genetics in Spain.

KCNJ11
Specificity
100 %
Genes
8 %
Familial Hypoglycemia Hyperinsulinemia Type 2 , Sequencing KCNJ11 Gene.

By Reference Laboratory Genetics in Spain.

KCNJ11
Specificity
100 %
Genes
8 %
Permanent Neonatal Diabetes Mellitus , Deletions-Duplications (MLPA) KCNJ11 Gene.

By Reference Laboratory Genetics in Spain.

KCNJ11
Specificity
100 %
Genes
8 %
Diabetes MODY, Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

BLK, KLF11, PAX4, SLC2A2, HNF4A, PDX1, KCNJ11, GCK, HNF1B, NEUROD1, HNF1A
Specificity
82 %
Genes
70 %
Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes.

By Reference Laboratory Genetics in Spain.

EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, RFX6, FOXP3, SLC19A2, PDX1, INS, KCNJ11, ABCC8, GCK, WFS1, HNF1B, NEUROD1
Specificity
38 %
Genes
47 %
Hyperinsulinism-Hyperammonemia syndrome , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

INSR, HADH, HNF4A, KCNJ11, ABCC8, SLC25A15, OTC, GLUD1, UCP2, GCK, SLC16A1, HNF1A
Specificity
42 %
Genes
39 %
Familial Hypoglycemia Hyperinsulinemia , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

INSR, HADH, KCNJ11, ABCC8, GLUD1, GCK, SLC16A1
Specificity
43 %
Genes
24 %
planTrue Extended.

By True Health Diagnostics in United States.

HGD, F11, MEFV, TNNT1, CYP21A2, KCNJ11, TMEM216, DPYD, PKHD1, CLN5, ABCC8, WAS, TTPA, SLC17A5, POMGNT1, MCOLN1, SLC26A2, PPT1, PROP1, CTNS , (...)

View the complete list with 61 more genes
Specificity
3 %
Genes
16 %
Permanent Neonatal Diabetes Mellitus: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PDX1, INS, KCNJ11, ABCC8, GCK
Specificity
100 %
Genes
39 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, BTK, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
8 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
8 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DMD, DHCR7, BLM, GBA , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
8 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DHCR7, BLM, GBA, FANCC , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
8 %
ABCC8 (NDM) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

ABCC8
Specificity
100 %
Genes
8 %
ABCC8 (CH) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

ABCC8
Specificity
100 %
Genes
8 %
Ashkenazi Jewish Carrier Screening Panel.

By Center for Human Genetics, Inc in United States.

F11, TMEM216, ABCC8, MCOLN1, NEB, FKTN, BLM, GBA, FANCC, ELP1, ASPA, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB
Specificity
6 %
Genes
8 %
Ashkenazi Jewish Diseases, 16 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

TMEM216, ABCC8, MCOLN1, NEB, BLM, FANCC, ELP1, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB
Specificity
8 %
Genes
8 %
ABCC8-Related Hyperinsulinism, 3 Variants.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ABCC8
Specificity
100 %
Genes
8 %
ABCC8 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

ABCC8
Specificity
100 %
Genes
8 %
ABCC8. Detection of the mutations c.560T>A (p.Val187Asp), c.3989-9G>A and c.4159_4161del (p.Phe1387del).

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ABCC8
Specificity
100 %
Genes
8 %
ABCC8. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ABCC8
Specificity
100 %
Genes
8 %
ABCC8. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ABCC8
Specificity
100 %
Genes
8 %
Permanent Neonatal Diabetes Mellitus (sequence analysis of ABCC8 gene).

By CGC Genetics in Portugal.

ABCC8
Specificity
100 %
Genes
8 %
Permanent neonatal diabetes mellitus (deletion/duplication analysis of ABCC8 gene).

By CGC Genetics in Portugal.

ABCC8
Specificity
100 %
Genes
8 %
Hyperinsulinemic hypoglycemia, familial, 1 (sequence analysis of ABCC8 gene).

By CGC Genetics in Portugal.

ABCC8
Specificity
100 %
Genes
8 %
Hyperinsulinemic hypoglycemia, familial, 1 (deletion/duplication analysis of ABCC8 gene).

By CGC Genetics in Portugal.

ABCC8
Specificity
100 %
Genes
8 %
Hyperinsulinemic hypoglycemia, familial, 1.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

ABCC8
Specificity
100 %
Genes
8 %
Transient neonatal diabetes mellitus 2.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

ABCC8
Specificity
100 %
Genes
8 %
Hypoglycemia of infancy, leucine-sensitive.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

ABCC8
Specificity
100 %
Genes
8 %
ABCC8-Related Hyperinsulinism.

By Exeter Molecular Genetics Laboratory in United Kingdom.

ABCC8
Specificity
100 %
Genes
8 %
ABCC8-Related Congenital Hyperinsulinism via ABCC8 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABCC8
Specificity
100 %
Genes
8 %
Department of Clinical Genetics.

By Department of Clinical Genetics Odense University Hospital in Denmark.

ABCC8
Specificity
100 %
Genes
8 %
ABCC8.

By Department of Clinical Genetics Odense University Hospital in Denmark.

ABCC8
Specificity
100 %
Genes
8 %
Ashkenazi panel (advanced).

By Centogene AG - the Rare Disease Company in Germany.

ABCC8, MCOLN1, NEB, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, G6PC, DLD, PCDH15, CLRN1, BCKDHB
Specificity
7 %
Genes
8 %
MODY panel.

By Centogene AG - the Rare Disease Company in Germany.

ZFP57, NKX2-2, BLK, KLF11, PAX4, RFX6, HNF4A, PDX1, INS, CEL, ABCC8, GCK, HNF1B, NEUROD1, HNF1A
Specificity
74 %
Genes
85 %
Hyperinsulinemic hypoglycemia familial 1.

By Centogene AG - the Rare Disease Company in Germany.

ABCC8
Specificity
100 %
Genes
8 %
Diabetes mellitus, permanent neonatal, ABCC8.

By GGA - Galil Genetic Analysis in Israel.

ABCC8
Specificity
100 %
Genes
8 %
Ashkenazi Jewish diseases.

By Asper Biogene Asper Biogene LLC in Estonia.

F11, MEFV, CYP21A2, LRRK2, TOR1A, TMEM216, ABCC8, MCOLN1, SERPINA1, NEB, FKTN, SMN1, LDLR, GJB2, BLM, GBA, FANCC, CFTR, ELP1, ASPA , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
8 %
Familial Hyperinsulinism, ABCC8 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

ABCC8
Specificity
100 %
Genes
8 %
Family Prep Screen.

By Counsyl in United States.

BCHE, HGD, F11, MEFV, VPS13B, CYP21A2, TMEM216, DPYD, PKHD1, LAMC2, CLN5, ABCC8, TTPA, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
8 %
Hyperinsulinemic-hypoglycemia type 1, Familial: ABCC8 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ABCC8
Specificity
100 %
Genes
8 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F9, VWF, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
8 %
Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TMEM216, ABCC8, MCOLN1, NEB, FKTN, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB, FMR1
Specificity
5 %
Genes
8 %
Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TMEM216, ABCC8, MCOLN1, NEB, FKTN, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB, FMR1
Specificity
5 %
Genes
8 %
Inheritest NGS, Ashkenazi Jewish Ancestry Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DHCR7, BLM, GBA, FANCC, CFTR , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
8 %
Familial Hyperinsulinism.

By Integrated Genetics Westborough Integrated Genetics in United States.

ABCC8
Specificity
100 %
Genes
8 %
Ashkenazi Jewish Carrier Testing.

By Integrated Genetics Westborough Integrated Genetics in United States.

TMEM216, ABCC8, MCOLN1, NEB, FKTN, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB, BCKDHA
Specificity
6 %
Genes
8 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

XPC, XPA, ERCC5, GSS, MEFV, NEU1, PEX12, PEX10, PEX26, FUCA1, PEX6, VPS13B, TMEM216, DPYD, PKHD1, PHGDH, LAMC2, CLN5, ABCC8, TTPA , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
8 %
Lysosomal Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ACY1, SLC46A1, PGK1, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
8 %
ABCC8.

By Fulgent Genetics Fulgent Genetics in United States.

ABCC8
Specificity
100 %
Genes
8 %
Lysosomal Disorders and Mucopolysaccharidosis Panel.

By Blueprint Genetics in Finland.

ACY1, MAN1B1, SLC46A1, PGK1, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13 , (...)

View the complete list with 82 more genes
Specificity
1 %
Genes
8 %
Diabetes mellitus, transient neonatal 2.

By Bioarray in Spain.

ABCC8
Specificity
100 %
Genes
8 %
Autosomal recessive hyperinsulinism due to SUR1 deficiency.

By Bioarray in Spain.

ABCC8
Specificity
100 %
Genes
8 %
ABCC8 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

ABCC8
Specificity
100 %
Genes
8 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
8 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
8 %
MODY panel.

By LifeLabs Genetics in Canada.

ZFP57, NKX2-2, BLK, KLF11, PAX4, RFX6, HNF4A, PDX1, INS, CEL, ABCC8, GCK, HNF1B, NEUROD1, HNF1A
Specificity
74 %
Genes
85 %
Transient Neonatal Diabetes Mellitus Type 2 , Sequencing ABCC8 Gene.

By Reference Laboratory Genetics in Spain.

ABCC8
Specificity
100 %
Genes
8 %
Familial Hypoglycemia Hyperinsulinemia Type 1 , Sequencing ABCC8 Gene.

By Reference Laboratory Genetics in Spain.

ABCC8
Specificity
100 %
Genes
8 %
Familial Hypoglycemia Hyperinsulinemia Type 1, Mutations (Val187Asp, delPhe1388,c.3989-9 G>A) ABCC8 Gene.

By Reference Laboratory Genetics in Spain.

ABCC8
Specificity
100 %
Genes
8 %
Familial Hypoglycemia Hyperinsulinemia Type 1 , Deletions-Duplications (MLPA) ABCC8 Gene.

By Reference Laboratory Genetics in Spain.

ABCC8
Specificity
100 %
Genes
8 %
planTrue Standard.

By True Health Diagnostics in United States.

TMEM216, ABCC8, MCOLN1, NEB, HBA2, FKTN, HBA1, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXB, HEXA, G6PC, SMPD1, DLD, PCDH15 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
8 %
planTrue Jewish Screen.

By True Health Diagnostics in United States.

TMEM216, ABCC8, MCOLN1, NEB, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXB, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB
Specificity
6 %
Genes
8 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
8 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
24 %
Monogenic Diabetes (MODY) Five Gene Evaluation (GCK,HNF1A,HNF1B,HNF4A,IPF1).

By Athena Diagnostics Inc in United States.

HNF4A, PDX1, GCK, HNF1B, HNF1A
Specificity
80 %
Genes
31 %
HNF1A (MODY3) DNA Sequencing and Deletion Test.

By Athena Diagnostics Inc in United States.

HNF1A
Specificity
100 %
Genes
8 %
Monogenic Diabetes (MODY) Four Gene Evaluation (GCK,HNF1A, HNF1B, HNF4A).

By Athena Diagnostics Inc in United States.

HNF4A, GCK, HNF1B, HNF1A
Specificity
75 %
Genes
24 %
Monogenic Diabetes (MODY) Three Gene Evaluation (GCK,HNF1A, HNF1B).

By Athena Diagnostics Inc in United States.

GCK, HNF1B, HNF1A
Specificity
67 %
Genes
16 %
Monogenic Diabetes (MODY) Two Gene Evaluation (GCK,HNF1A).

By Athena Diagnostics Inc in United States.

GCK, HNF1A
Specificity
100 %
Genes
16 %
HNF1A Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

HNF1A
Specificity
100 %
Genes
8 %
HNF1A Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

HNF1A
Specificity
100 %
Genes
8 %
MODY3 - Maturity onset diabetes of the young type 3.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

HNF1A
Specificity
100 %
Genes
8 %
Maturity onset diabetes of the young (MODY) Panel.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

HNF4A, GCK, HNF1B, HNF1A
Specificity
75 %
Genes
24 %
MODY Panel.

By Ambry Genetics in United States.

HNF4A, PDX1, GCK, HNF1B, HNF1A
Specificity
80 %
Genes
31 %
HNF1A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

HNF1A
Specificity
100 %
Genes
8 %
HNF4,GCK,HNF1A,HNF1B, NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

HNF4A, GCK, HNF1B, HNF1A
Specificity
75 %
Genes
24 %
MODY (deletion/duplication analysis of GCK, HNF1A, HNF1B and HNF4A genes).

By CGC Genetics in Portugal.

HNF4A, GCK, HNF1B, HNF1A
Specificity
75 %
Genes
24 %
MODY 3 (sequence analysis of HNF1A gene).

By CGC Genetics in Portugal.

HNF1A
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young, type 3.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

HNF1A
Specificity
100 %
Genes
8 %
Maturity Onset Diabetes of the Young (Types 1 to 10).

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

BLK, KLF11, PAX4, HNF4A, PDX1, INS, CEL, GCK, HNF1B, NEUROD1, HNF1A
Specificity
91 %
Genes
77 %
Familial Hepatic Adenomas due to bi-allelic inactivation of HNF1a.

By Exeter Molecular Genetics Laboratory in United Kingdom.

HNF1A
Specificity
100 %
Genes
8 %
Maturity-Onset Diabetes of the Young Subtype HNF1A.

By Exeter Molecular Genetics Laboratory in United Kingdom.

HNF1A
Specificity
100 %
Genes
8 %
Maturity Onset Diabetes of the Young (MODY) via the HNF1A Gene.

By PreventionGenetics PreventionGenetics in United States.

HNF1A
Specificity
100 %
Genes
8 %
HNF1A.

By Department of Clinical Genetics Odense University Hospital in Denmark.

HNF1A
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young type 3.

By Institute of Human Genetics Cologne University in Germany.

HNF1A
Specificity
100 %
Genes
8 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
16 %
Hereditary Cancer Syndromes - panels.

By MGZ Medical Genetics Center in Germany.

RNF43, CEP57, DDB2, DIS3L2, XPC, NTHL1, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, AXIN2, POLE, EGFR, GREM1 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
8 %
Maturity Onset Diabetes of the Young.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

KLF11, HNF4A, PDX1, GCK, HNF1B, NEUROD1, HNF1A
Specificity
86 %
Genes
47 %
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company in Germany.

MYCL, ROS1, RPTOR, KIF5B, GNAI2, GNA13, EML4, BRD4, ARAF, NFE2L2, GNG2, KEAP1, NRG1, CCNE1, CD74, RICTOR, ERBB4, MYC, BCL6, SMO , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
8 %
Maturity-onset diabetes of the young type 3.

By Centogene AG - the Rare Disease Company in Germany.

HNF1A
Specificity
100 %
Genes
8 %
Maturity-Onset Diabetes of the Young Type 3.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

HNF1A
Specificity
100 %
Genes
8 %
Maturity onset diabetes mellitus in young.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

BLK, KLF11, PAX4, HNF4A, PDX1, INS, CEL, GCK, HNF1B, NEUROD1, HNF1A
Specificity
91 %
Genes
77 %
Renal cell carcinoma Panel.

By CeGaT GmbH in Germany.

BAP1, MITF, MET, FLCN, SDHD, PALB2, TSC1, TSC2, SDHA, SDHB, FH, SDHC, HNF1B, SDHAF2, WT1, HNF1A, TP53, PTEN, MLH1, MSH6 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
8 %
Single gene testing HNF1A.

By CeGaT GmbH in Germany.

HNF1A
Specificity
100 %
Genes
8 %
Maturity-Onset Diabetes of the Young Type 3 (HNF1A, MODY3).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HNF1A
Specificity
100 %
Genes
8 %
Cancer Predisposition.

By Asper Biogene Asper Biogene LLC in Estonia.

DDB2, DIS3L2, XPC, RHBDF2, CYLD, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
8 %
MODY3(maturity-onset diabetes of the young), TCF1 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

HNF1A
Specificity
100 %
Genes
8 %
Diabetes mellitus, insulin-dependent, 20.

By Praxis fuer Humangenetik Wien in Austria.

HNF1A
Specificity
100 %
Genes
8 %
MODY 03.

By Praxis fuer Humangenetik Wien in Austria.

HNF1A
Specificity
100 %
Genes
8 %
HNF1A Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

HNF1A
Specificity
100 %
Genes
8 %
MODY 1/2/3 (Maturity onset diabetes of the young).

By Molecular Diagnosis Centre National University Hospital in Singapore.

HNF4A, GCK, HNF1A
Specificity
100 %
Genes
24 %
Diabetes mellitus, insulin-dependent, 20.

By MedGene in Slovakia.

HNF1A
Specificity
100 %
Genes
8 %
MODY 03.

By MedGene in Slovakia.

HNF1A
Specificity
100 %
Genes
8 %
MODY type 3: HNF1A gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HNF1A
Specificity
100 %
Genes
8 %
MODY type 3: HNF1A gene deletions-duplications analysis (MLPA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HNF1A
Specificity
100 %
Genes
8 %
Maturity Onset Diabetes of the Young (MODY): Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HNF4A, PDX1, GCK, HNF1A
Specificity
100 %
Genes
31 %
HNF1A.

By Fulgent Genetics Fulgent Genetics in United States.

HNF1A
Specificity
100 %
Genes
8 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

REST, PPM1D, EXO1, CD70, CEP57, ERCC1, MLH3, DDB2, DIS3L2, NTHL1, HOXB13, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, DDX41, SAMD9L , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
8 %
MODY syndrome type 3.

By Bioarray in Spain.

HNF1A
Specificity
100 %
Genes
8 %
HNF1A Gene Sequencing and Deletion and Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HNF1A
Specificity
100 %
Genes
8 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2 , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
8 %
Guardant360.

By Guardant Health in United States.

MAPK3, RHOA, RHEB, MAPK1, ESR1, NTRK3, ROS1, ARAF, NFE2L2, CCNE1, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, CCND2, AKT1, GNA11, FBXW7 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
8 %
Comprehensive Panel for Individualized Cancer Threatment.

By GeneKor MSA in Greece.

ROS1, ERBB4, SMO, ERBB2, DDR2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
8 %
Cancer Hotspot Analysis.

By Advanced Technology Laboratory Spectrum Health in United States.

ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
8 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5 , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
8 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
8 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

NKX2-8, RHOA, BCL2L1, ETV4, ETV1, GAS6, RPS6KB1, RHEB, SPOP, TIAF1, XPO1, ZNF217, JAK1, KNSTRN, IFITM1, APEX1, ATP11B, MDM4, BCL9, BIRC2 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
8 %
HEPATIC ADENOMA.

By Laboratorio de Genetica Clinica SL in Spain.

HNF1A
Specificity
100 %
Genes
8 %
MATURITY-ONSET DIABETES OF THE YOUNG (MODY) TYPE 3.

By Laboratorio de Genetica Clinica SL in Spain.

HNF1A
Specificity
100 %
Genes
8 %
Diabetes MODY Type 3, Sequencing HNF1A Gene.

By Reference Laboratory Genetics in Spain.

HNF1A
Specificity
100 %
Genes
8 %
Somatic Hepatic Adenoma , Sequencing HNF1A.

By Reference Laboratory Genetics in Spain.

HNF1A
Specificity
100 %
Genes
8 %
Diabetes MODY Types 1-2-3 , Deletions-Duplications (MLPA) HNF4A, GCK, HNF1A Genes.

By Reference Laboratory Genetics in Spain.

HNF4A, GCK, HNF1A
Specificity
100 %
Genes
24 %
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes.

By Reference Laboratory Genetics in Spain.

CEP57, DDB2, DIS3L2, XPC, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
8 %
Hereditary Renal Cancer , Panel Massive Sequencing (NGS) 21 Genes.

By Reference Laboratory Genetics in Spain.

DIS3L2, BAP1, MITF, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, HNF1B, WT1, HNF1A, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
8 %
Maturity-onset diabetes of the young, type 3.

By Labor Dr. Wisplinghoff in Germany.

HNF1A
Specificity
100 %
Genes
8 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
8 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
24 %
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
8 %
GCK (NDM) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

GCK
Specificity
100 %
Genes
8 %
GCK (CH) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

GCK
Specificity
100 %
Genes
8 %
GCK (MODY2) DNA Sequencing and Deletion Test.

By Athena Diagnostics Inc in United States.

GCK
Specificity
100 %
Genes
8 %
GCK deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

GCK
Specificity
100 %
Genes
8 %
GCK sequencing.

By Genetic Services Laboratory University of Chicago in United States.

GCK
Specificity
100 %
Genes
8 %
GCK-Related Hyperinsulinism.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

GCK
Specificity
100 %
Genes
8 %
GCK mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

GCK
Specificity
100 %
Genes
8 %
GCK. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GCK
Specificity
100 %
Genes
8 %
MODY 2 (sequence analysis of GCK gene).

By CGC Genetics in Portugal.

GCK
Specificity
100 %
Genes
8 %
GCK-Related Hyperinsulinism.

By CGC Genetics in Portugal.

GCK
Specificity
100 %
Genes
8 %
GCK-Related Permanent Neonatal Diabetes Mellitus.

By CGC Genetics in Portugal.

GCK
Specificity
100 %
Genes
8 %
Permanent neonatal diabetes mellitus (deletion/duplication analysis of GCK gene).

By CGC Genetics in Portugal.

GCK
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young, type 2.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GCK
Specificity
100 %
Genes
8 %
Hyperinsulinemic hypoglycemia familial 3.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GCK
Specificity
100 %
Genes
8 %
GCK-Related Hyperinsulinism.

By Exeter Molecular Genetics Laboratory in United Kingdom.

GCK
Specificity
100 %
Genes
8 %
Maturity-Onset Diabetes of the Young Subtype GCK.

By Exeter Molecular Genetics Laboratory in United Kingdom.

GCK
Specificity
100 %
Genes
8 %
Hyperglycemia and Hypoglycemia via GCK Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GCK
Specificity
100 %
Genes
8 %
GCK.

By Department of Clinical Genetics Odense University Hospital in Denmark.

GCK
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young type 2.

By Institute of Human Genetics Cologne University in Germany.

GCK
Specificity
100 %
Genes
8 %
ABCC8-Related Hyperinsulinism.

By Bioscientia GmbH Center for Human Genetics in Germany.

GCK
Specificity
100 %
Genes
8 %
Maturity-Onset Diabetes of the Young Type 2.

By Bioscientia GmbH Center for Human Genetics in Germany.

GCK
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young type 2.

By Centogene AG - the Rare Disease Company in Germany.

GCK
Specificity
100 %
Genes
8 %
Hyperinsulinemic hypoglycemia type 3.

By Centogene AG - the Rare Disease Company in Germany.

GCK
Specificity
100 %
Genes
8 %
Maturity-Onset Diabetes of the Young Type 2.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

GCK
Specificity
100 %
Genes
8 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

CYC1, NDUFB9, MPC1, ATP5F1A, YWHAE, UQCRC2, DECR1, CHCHD10, PET100, COA5, SERAC1, COX20, SLC25A1, IBA57, HOGA1, COQ8B, IDH1, HADH, EARS2, TPK1 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
8 %
Single gene testing GCK.

By CeGaT GmbH in Germany.

GCK
Specificity
100 %
Genes
8 %
GCK.

By Innovagenomics Innovagenomics S.L in Spain.

GCK
Specificity
100 %
Genes
8 %
Maturity-Onset Diabetes of the Young Type 2 (GCK, MODY2).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

GCK
Specificity
100 %
Genes
8 %
Diabetes mellitus, gestational.

By Praxis fuer Humangenetik Wien in Austria.

GCK
Specificity
100 %
Genes
8 %
Diabetes mellitus, noninsulin-dependent, late onset.

By Praxis fuer Humangenetik Wien in Austria.

GCK
Specificity
100 %
Genes
8 %
Hyperinsulinemic hypoglycemia, familial, 3.

By Praxis fuer Humangenetik Wien in Austria.

GCK
Specificity
100 %
Genes
8 %
MODY 02.

By Praxis fuer Humangenetik Wien in Austria.

GCK
Specificity
100 %
Genes
8 %
GCK Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

GCK
Specificity
100 %
Genes
8 %
Diabetes mellitus, gestational.

By MedGene in Slovakia.

GCK
Specificity
100 %
Genes
8 %
Diabetes mellitus, noninsulin-dependent, late onset.

By MedGene in Slovakia.

GCK
Specificity
100 %
Genes
8 %
Hyperinsulinemic hypoglycemia, familial, 3.

By MedGene in Slovakia.

GCK
Specificity
100 %
Genes
8 %
MODY 02.

By MedGene in Slovakia.

GCK
Specificity
100 %
Genes
8 %
MODY type 2: GCK gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GCK
Specificity
100 %
Genes
8 %
GCK.

By Fulgent Genetics Fulgent Genetics in United States.

GCK
Specificity
100 %
Genes
8 %
MODY syndrome type 2.

By Bioarray in Spain.

GCK
Specificity
100 %
Genes
8 %
GCK Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

GCK
Specificity
100 %
Genes
8 %
GCK Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

GCK
Specificity
100 %
Genes
8 %
MATURITY-ONSET DIABETES OF THE YOUNG (MODY) TYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

GCK
Specificity
100 %
Genes
8 %
Diabetes MODY Type 2, Sequencing GCK Gene.

By Reference Laboratory Genetics in Spain.

GCK
Specificity
100 %
Genes
8 %
Diabetes MODY Type 2 , Deletions-Duplications (MLPA) GCK Gene.

By Reference Laboratory Genetics in Spain.

GCK
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young, type 2.

By Labor Dr. Wisplinghoff in Germany.

GCK
Specificity
100 %
Genes
8 %
HNF4A (MODY1) Sequencing and Deletion Test.

By Athena Diagnostics Inc in United States.

HNF4A
Specificity
100 %
Genes
8 %
Maturity onset diabetes of the young type 1.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

HNF4A
Specificity
100 %
Genes
8 %
HNF4A mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

HNF4A
Specificity
100 %
Genes
8 %
HNF4. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

HNF4A
Specificity
100 %
Genes
8 %
MODY 1 (sequence analysis of HNF4A gene).

By CGC Genetics in Portugal.

HNF4A
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young, type 1.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

HNF4A
Specificity
100 %
Genes
8 %
Maturity-Onset Diabetes of the Young Subtype HNF4A.

By Exeter Molecular Genetics Laboratory in United Kingdom.

HNF4A
Specificity
100 %
Genes
8 %
Maturity Onset Diabetes of the Young (MODY) via the HNF4A Gene.

By PreventionGenetics PreventionGenetics in United States.

HNF4A
Specificity
100 %
Genes
8 %
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC26A1, ADCY10, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, HOGA1, ATP6V0A4, SLC4A1, ATP6V1B1, SLC12A1, KCNJ1, HNF4A, CASR, GRHPR, VDR , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
8 %
HNF4A.

By Department of Clinical Genetics Odense University Hospital in Denmark.

HNF4A
Specificity
100 %
Genes
8 %
Nephrolithiasis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

SLC26A1, ADCY10, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, AP2S1, HOGA1, ATP6V0A4, SLC4A1, GNA11, ATP6V1B1, SLC12A1, KCNJ1, HNF4A, CASR , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
8 %
Nephrolithiasis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SLC26A1, ADCY10, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, AP2S1, HOGA1, ATP6V0A4, SLC4A1, GNA11, ATP6V1B1, SLC12A1, KCNJ1, HNF4A, CASR , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
8 %
Nephrolithiasis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SLC26A1, ADCY10, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, AP2S1, HOGA1, ATP6V0A4, SLC4A1, GNA11, ATP6V1B1, SLC12A1, KCNJ1, HNF4A, CASR , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
8 %
Maturity-onset diabetes of the young type 1.

By Institute of Human Genetics Cologne University in Germany.

HNF4A
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young type 1.

By Centogene AG - the Rare Disease Company in Germany.

HNF4A
Specificity
100 %
Genes
8 %
HNF4A-Related Maturity-Onset Diabetes of the Young Type 1.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

HNF4A
Specificity
100 %
Genes
8 %
Single gene testing HNF4A.

By CeGaT GmbH in Germany.

HNF4A
Specificity
100 %
Genes
8 %
Maturity-Onset Diabetes of the Young Type 1 (HNF4A, MODY1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HNF4A
Specificity
100 %
Genes
8 %
MODY 01.

By Praxis fuer Humangenetik Wien in Austria.

HNF4A
Specificity
100 %
Genes
8 %
HNF4A Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

HNF4A
Specificity
100 %
Genes
8 %
MODY 01.

By MedGene in Slovakia.

HNF4A
Specificity
100 %
Genes
8 %
MODY type 1: HNF4A gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HNF4A
Specificity
100 %
Genes
8 %
HNF4A.

By Fulgent Genetics Fulgent Genetics in United States.

HNF4A
Specificity
100 %
Genes
8 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
8 %
Nephrolithiasis Panel.

By Blueprint Genetics in Finland.

MOCOS, SLC26A1, ADCY10, GPHN, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, HOGA1, ATP6V0A4, SLC4A1, GNA11, ATP6V1B1, SLC12A1, KCNJ1, HNF4A , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
8 %
Familiar Hyperinsulinism.

By Bioarray in Spain.

HNF4A
Specificity
100 %
Genes
8 %
MODY syndrome type 1.

By Bioarray in Spain.

HNF4A
Specificity
100 %
Genes
8 %
HNF4A Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HNF4A
Specificity
100 %
Genes
8 %
MATURITY-ONSET DIABETES OF THE YOUNG (MODY) TYPE 1.

By Laboratorio de Genetica Clinica SL in Spain.

HNF4A
Specificity
100 %
Genes
8 %
Diabetes MODY Type 1, Sequencing HNF4A Gene.

By Reference Laboratory Genetics in Spain.

HNF4A
Specificity
100 %
Genes
8 %
Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes.

By Reference Laboratory Genetics in Spain.

KL, GALNT3, DMP1, SLC34A3, CLCN5, CYP2R1, ENPP1, EPHX1, BAAT, ATP6V0A4, SLC4A1, ABCC6, PTH1R, TJP2, FGF23, PHEX, HNF4A, CASR, CTNS, VDR , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
8 %
Maturity-onset diabetes of the young, type 1.

By Labor Dr. Wisplinghoff in Germany.

HNF4A
Specificity
100 %
Genes
8 %
Retinitis Pigmentosa Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, ARL3, SPP2, DHX38, IFT140, MVK, OFD1, POMGNT1, ROM1, PRPF3, NR2E3 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
8 %
NEUROD1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

NEUROD1
Specificity
100 %
Genes
8 %
MODY 6 (sequence analysis of NEUROD1 gene).

By CGC Genetics in Portugal.

NEUROD1
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young, type 6.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

NEUROD1
Specificity
100 %
Genes
8 %
Maturity-Onset Diabetes of the Young Subtype NEUROD1.

By Exeter Molecular Genetics Laboratory in United Kingdom.

NEUROD1
Specificity
100 %
Genes
8 %
Maturity Onset Diabetes of Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via NEUROD1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NEUROD1
Specificity
100 %
Genes
8 %
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PLA2G5, KIAA1549, ADGRA3, ARL2BP, SLC7A14, EMC1, RBP3, NR2E3, MAK, CLN3, PRPF31, EYS, LCA5, CERKL, FLVCR1, SEMA4A, PRCD, RD3, RDH12, LRAT , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
8 %
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PLA2G5, KIAA1549, ADGRA3, ARL2BP, SLC7A14, EMC1, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, CLN3, RP2, PRPF8, PRPF31, CA4, PITPNM3, EYS, LCA5 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
8 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
8 %
NEUROD1.

By Department of Clinical Genetics Odense University Hospital in Denmark.

NEUROD1
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young type 6.

By Centogene AG - the Rare Disease Company in Germany.

NEUROD1
Specificity
100 %
Genes
8 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

CKAP4, DGKQ, RHEX, ACBD5, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, ADAMTS18, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
8 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

CKAP4, DGKQ, RHEX, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
8 %
MODY 06.

By Praxis fuer Humangenetik Wien in Austria.

NEUROD1
Specificity
100 %
Genes
8 %
MODY 06.

By MedGene in Slovakia.

NEUROD1
Specificity
100 %
Genes
8 %
MODY type 6: NEUROD1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NEUROD1
Specificity
100 %
Genes
8 %
NEUROD1.

By Fulgent Genetics Fulgent Genetics in United States.

NEUROD1
Specificity
100 %
Genes
8 %
NEUROD1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

NEUROD1
Specificity
100 %
Genes
8 %
MATURITY-ONSET DIABETES OF THE YOUNG (MODY) TYPE 6.

By Laboratorio de Genetica Clinica SL in Spain.

NEUROD1
Specificity
100 %
Genes
8 %
Diabetes MODY Type 6, Sequencing NEUROD1 Gene.

By Reference Laboratory Genetics in Spain.

NEUROD1
Specificity
100 %
Genes
8 %
Diabetes MODY Types 4-10 , Deletions-Duplications (MLPA) PDX1, NEUROD1, KLF11, CEL, PAX4, INS Genes.

By Reference Laboratory Genetics in Spain.

KLF11, PAX4, PDX1, INS, CEL, NEUROD1
Specificity
100 %
Genes
47 %
Maturity-onset diabetes of the young, type 6.

By Labor Dr. Wisplinghoff in Germany.

NEUROD1
Specificity
100 %
Genes
8 %
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

KIAA1549, ADGRA3, TRNT1, IFT172, ARL2BP, NEK2, SLC7A14, KIZ, ZNF408, EMC1, AGBL5, DHX38, IFT140, MVK, POMGNT1, RBP3, NR2E3, MAK, BBS2, BBS1 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
8 %
INS (NDM) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

INS
Specificity
100 %
Genes
8 %
INS mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

INS
Specificity
100 %
Genes
8 %
INS. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

INS
Specificity
100 %
Genes
8 %
Permanent neonatal diabetes mellitus (deletion/duplication analysis of INS gene).

By CGC Genetics in Portugal.

INS
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young, type 10.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

INS
Specificity
100 %
Genes
8 %
Maturity Onset Diabetes of the Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via the INS Gene.

By PreventionGenetics PreventionGenetics in United States.

INS
Specificity
100 %
Genes
8 %
INS.

By Department of Clinical Genetics Odense University Hospital in Denmark.

INS
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young type 10.

By Centogene AG - the Rare Disease Company in Germany.

INS
Specificity
100 %
Genes
8 %
Diabetes mellitus type 1.

By Centogene AG - the Rare Disease Company in Germany.

INS
Specificity
100 %
Genes
8 %
Diabetes mellitus permanent neonatal.

By Centogene AG - the Rare Disease Company in Germany.

INS
Specificity
100 %
Genes
8 %
Diabetes mellitus, insulin-dependent, 2.

By Praxis fuer Humangenetik Wien in Austria.

INS
Specificity
100 %
Genes
8 %
Diabetes mellitus, permanent neonatal.

By Praxis fuer Humangenetik Wien in Austria.

INS
Specificity
100 %
Genes
8 %
MODY 10.

By Praxis fuer Humangenetik Wien in Austria.

INS
Specificity
100 %
Genes
8 %
Diabetes mellitus, insulin-dependent, 2.

By MedGene in Slovakia.

INS
Specificity
100 %
Genes
8 %
Diabetes mellitus, permanent neonatal.

By MedGene in Slovakia.

INS
Specificity
100 %
Genes
8 %
MODY 10.

By MedGene in Slovakia.

INS
Specificity
100 %
Genes
8 %
INS.

By Fulgent Genetics Fulgent Genetics in United States.

INS
Specificity
100 %
Genes
8 %
Diabetes mellitus, permanent neonatal.

By Bioarray in Spain.

INS
Specificity
100 %
Genes
8 %
INS Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

INS
Specificity
100 %
Genes
8 %
MATURITY-ONSET DIABETES OF THE YOUNG (MODY) TYPE 10.

By Laboratorio de Genetica Clinica SL in Spain.

INS
Specificity
100 %
Genes
8 %
Permanent Neonatal Diabetes Mellitus , Sequencing INS Gene.

By Reference Laboratory Genetics in Spain.

INS
Specificity
100 %
Genes
8 %
Permanent Neonatal Diabetes Mellitus , Deletions-Duplications (MLPA) INS Gene.

By Reference Laboratory Genetics in Spain.

INS
Specificity
100 %
Genes
8 %
CEL (MODY 8) Mutation Analysis.

By Athena Diagnostics Inc in United States.

CEL
Specificity
100 %
Genes
8 %
Pancreas Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

UBR1, CLDN2, CPA1, CTRC, PRSS1, SPINK1, CASR, CEL, SBDS, CFTR
Specificity
10 %
Genes
8 %
Pancreatic Insufficiency Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

UBR1, CEL, SBDS, CFTR
Specificity
25 %
Genes
8 %
MODY 8 (sequence analysis of CEL gene).

By CGC Genetics in Portugal.

CEL
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young, type 8.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CEL
Specificity
100 %
Genes
8 %
CEL.

By Department of Clinical Genetics Odense University Hospital in Denmark.

CEL
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young type 8.

By Centogene AG - the Rare Disease Company in Germany.

CEL
Specificity
100 %
Genes
8 %
MODY 08.

By Praxis fuer Humangenetik Wien in Austria.

CEL
Specificity
100 %
Genes
8 %
MODY 08.

By MedGene in Slovakia.

CEL
Specificity
100 %
Genes
8 %
CEL.

By Fulgent Genetics Fulgent Genetics in United States.

CEL
Specificity
100 %
Genes
8 %
CEL Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

CEL
Specificity
100 %
Genes
8 %
MATURITY-ONSET DIABETES OF THE YOUNG (MODY) TYPE 8.

By Laboratorio de Genetica Clinica SL in Spain.

CEL
Specificity
100 %
Genes
8 %
MODY 9 (sequence analysis of PAX4 gene).

By CGC Genetics in Portugal.

PAX4
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young, type 9.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

PAX4
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young, type 9.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

PAX4
Specificity
100 %
Genes
8 %
Diabetes mellitus, ketosis-prone.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

PAX4
Specificity
100 %
Genes
8 %
Maturity Onset Diabetes of the Young (MODY) via the PAX4 Gene.

By PreventionGenetics PreventionGenetics in United States.

PAX4
Specificity
100 %
Genes
8 %
PAX4.

By Department of Clinical Genetics Odense University Hospital in Denmark.

PAX4
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young type 9.

By Centogene AG - the Rare Disease Company in Germany.

PAX4
Specificity
100 %
Genes
8 %
Diabetes mellitus, ketosis-prone.

By Praxis fuer Humangenetik Wien in Austria.

PAX4
Specificity
100 %
Genes
8 %
Diabetes mellitus, noninsulin-dependent.

By Praxis fuer Humangenetik Wien in Austria.

PAX4
Specificity
100 %
Genes
8 %
MODY 09.

By Praxis fuer Humangenetik Wien in Austria.

PAX4
Specificity
100 %
Genes
8 %
Diabetes mellitus, ketosis-prone.

By MedGene in Slovakia.

PAX4
Specificity
100 %
Genes
8 %
Diabetes mellitus, noninsulin-dependent.

By MedGene in Slovakia.

PAX4
Specificity
100 %
Genes
8 %
MODY 09.

By MedGene in Slovakia.

PAX4
Specificity
100 %
Genes
8 %
MODY type 9: PAX4 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PAX4
Specificity
100 %
Genes
8 %
PAX4.

By Fulgent Genetics Fulgent Genetics in United States.

PAX4
Specificity
100 %
Genes
8 %
PAX4 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

PAX4
Specificity
100 %
Genes
8 %
MATURITY-ONSET DIABETES OF THE YOUNG (MODY) TYPE 9.

By Laboratorio de Genetica Clinica SL in Spain.

PAX4
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young, type 9.

By Labor Dr. Wisplinghoff in Germany.

PAX4
Specificity
100 %
Genes
8 %
APPL1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

APPL1
Specificity
100 %
Genes
8 %
MODY14.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

APPL1
Specificity
100 %
Genes
8 %
Maturity Onset Diabetes of the Young (MODY) via APPL1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

APPL1
Specificity
100 %
Genes
8 %
MATURITY-ONSET DIABETES OF THE YOUNG (MODY) TYPE 14.

By Laboratorio de Genetica Clinica SL in Spain.

APPL1
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young, type 14.

By Labor Dr. Wisplinghoff in Germany.

APPL1
Specificity
100 %
Genes
8 %
MODY 11 (sequence analysis of BLK gene).

By CGC Genetics in Portugal.

BLK
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young, type 11.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

BLK
Specificity
100 %
Genes
8 %
Maturity Onset Diabetes of the Young (MODY) via the BLK Gene.

By PreventionGenetics PreventionGenetics in United States.

BLK
Specificity
100 %
Genes
8 %
BLK.

By Department of Clinical Genetics Odense University Hospital in Denmark.

BLK
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young type 11.

By Centogene AG - the Rare Disease Company in Germany.

BLK
Specificity
100 %
Genes
8 %
MODY 11.

By Praxis fuer Humangenetik Wien in Austria.

BLK
Specificity
100 %
Genes
8 %
MODY 11.

By MedGene in Slovakia.

BLK
Specificity
100 %
Genes
8 %
MODY type 11: BLK gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

BLK
Specificity
100 %
Genes
8 %
BLK.

By Fulgent Genetics Fulgent Genetics in United States.

BLK
Specificity
100 %
Genes
8 %
BLK Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

BLK
Specificity
100 %
Genes
8 %
MATURITY-ONSET DIABETES OF THE YOUNG (MODY) TYPE 11.

By Laboratorio de Genetica Clinica SL in Spain.

BLK
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young, type 11.

By Labor Dr. Wisplinghoff in Germany.

BLK
Specificity
100 %
Genes
8 %
MODY 7 (sequence analysis of KLF11 gene).

By CGC Genetics in Portugal.

KLF11
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young, type 7.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

KLF11
Specificity
100 %
Genes
8 %
Maturity Onset Diabetes of Young (MODY) via KLF11 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

KLF11
Specificity
100 %
Genes
8 %
KLF11.

By Department of Clinical Genetics Odense University Hospital in Denmark.

KLF11
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young type 7.

By Centogene AG - the Rare Disease Company in Germany.

KLF11
Specificity
100 %
Genes
8 %
MODY 07.

By Praxis fuer Humangenetik Wien in Austria.

KLF11
Specificity
100 %
Genes
8 %
MODY 07.

By MedGene in Slovakia.

KLF11
Specificity
100 %
Genes
8 %
MODY type 7: KLF11 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

KLF11
Specificity
100 %
Genes
8 %
KLF11.

By Fulgent Genetics Fulgent Genetics in United States.

KLF11
Specificity
100 %
Genes
8 %
KLF11 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

KLF11
Specificity
100 %
Genes
8 %
MATURITY-ONSET DIABETES OF THE YOUNG (MODY) TYPE 7.

By Laboratorio de Genetica Clinica SL in Spain.

KLF11
Specificity
100 %
Genes
8 %
Diabetes MODY Type 7 , Sequencing KLF11 Gene.

By Reference Laboratory Genetics in Spain.

KLF11
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young, type 7.

By Labor Dr. Wisplinghoff in Germany.

KLF11
Specificity
100 %
Genes
8 %
IPF1 (MODY4) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

PDX1
Specificity
100 %
Genes
8 %
IPF1 (NDM) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

PDX1
Specificity
100 %
Genes
8 %
PDX1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

PDX1
Specificity
100 %
Genes
8 %
PDX1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

PDX1
Specificity
100 %
Genes
8 %
PDX1 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

PDX1
Specificity
100 %
Genes
8 %
PDX1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

PDX1
Specificity
100 %
Genes
8 %
MODY 4 (sequence analysis of PDX1 gene).

By CGC Genetics in Portugal.

PDX1
Specificity
100 %
Genes
8 %
Permanent neonatal diabetes mellitus (deletion/duplication analysis of PDX1 gene).

By CGC Genetics in Portugal.

PDX1
Specificity
100 %
Genes
8 %
Pancreatic agenesis (sequence analysis of PDX1 gene).

By CGC Genetics in Portugal.

PDX1
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young, type 4.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

PDX1
Specificity
100 %
Genes
8 %
MODY4 Diabetes.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

PDX1
Specificity
100 %
Genes
8 %
Maturity-Onset Diabetes of the Young Subtype PDX1.

By Exeter Molecular Genetics Laboratory in United Kingdom.

PDX1
Specificity
100 %
Genes
8 %
Maturity Onset Diabetes of the Young (MODY) via the PDX1 Gene.

By PreventionGenetics PreventionGenetics in United States.

PDX1
Specificity
100 %
Genes
8 %
PDX1.

By Department of Clinical Genetics Odense University Hospital in Denmark.

PDX1
Specificity
100 %
Genes
8 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

HSPA9, TIMM44, NDUFB9, MIP, BCL2, CRBN, GSR, HADH, SCO1, COX10, LARS2, PDX1, BRIP1, SDHD, SDHA, PDHX, TMLHE, CPOX, OGG1, PPOX , (...)

View the complete list with 160 more genes
Specificity
1 %
Genes
8 %
Maturity-onset diabetes of the young type 4.

By Centogene AG - the Rare Disease Company in Germany.

PDX1
Specificity
100 %
Genes
8 %
Maturity-Onset Diabetes of the Young Type 4 (PDX1, MODY4).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PDX1
Specificity
100 %
Genes
8 %
Mitochondrial Diseases (mtDNA and 133 nuclear genes).

By Asper Biogene Asper Biogene LLC in Estonia.

NDUFB9, COA5, HADH, SCO1, COX10, SLC19A3, SETX, PDX1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, TACO1, SOD1, APTX, SLC25A20, COX6B1, FASTKD2, LRPPRC , (...)

View the complete list with 112 more genes
Specificity
1 %
Genes
8 %
MODY 04.

By Praxis fuer Humangenetik Wien in Austria.

PDX1
Specificity
100 %
Genes
8 %
Pancreatic agenesis.

By Praxis fuer Humangenetik Wien in Austria.

PDX1
Specificity
100 %
Genes
8 %
MODY 04.

By MedGene in Slovakia.

PDX1
Specificity
100 %
Genes
8 %
Pancreatic agenesis.

By MedGene in Slovakia.

PDX1
Specificity
100 %
Genes
8 %
MODY type 4: IPF1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PDX1
Specificity
100 %
Genes
8 %
PDX1.

By Fulgent Genetics Fulgent Genetics in United States.

PDX1
Specificity
100 %
Genes
8 %
PDX1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

PDX1
Specificity
100 %
Genes
8 %
MATURITY-ONSET DIABETES OF THE YOUNG (MODY) TYPE 4.

By Laboratorio de Genetica Clinica SL in Spain.

PDX1
Specificity
100 %
Genes
8 %
Diabetes MODY Type 4, Sequencing IPF1 Gene.

By Reference Laboratory Genetics in Spain.

PDX1
Specificity
100 %
Genes
8 %
Pancreatic Agenesis , Sequencing PDX1 Gene.

By Reference Laboratory Genetics in Spain.

PDX1
Specificity
100 %
Genes
8 %
Maturity-onset diabetes of the young, type 4.

By Labor Dr. Wisplinghoff in Germany.

PDX1
Specificity
100 %
Genes
8 %

Alternate names

Maturity-onset Diabetes Of The Young; Mody Is also known as mason-type diabetes;maturity-onset diabetes of the young.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like IMMUNODEFICIENCY 13; IMD13 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1 GLYCOGEN STORAGE DISEASE XII; GSD12

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