Genomics Precision Diagnostic > Endocrinology > Maturity Onset Diabetes of the Young and Neonatal Diabetes Precision Panel

Maturity Onset Diabetes of the Young and Neonatal Diabetes Precision Panel – 43 genes

Maturity-onset diabetes of the young (MODY) and Neonatal Diabetes Mellitus are a heterogeneous group of inherited monogenic and polygenic disorders that are present during adolescence or young adulthood and affect an individual’s blood sugar level due to beta cell dysfunction.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Maturity-onset diabetes of the young (MODY) and Neonatal Diabetes Mellitus are a heterogeneous group of inherited monogenic and polygenic disorders that are present during adolescence or young adulthood and affect an individual’s blood sugar level due to beta cell dysfunction. Genetic defects in the pancreatic beta cells result in the decrease of insulin production required for glucose utilization thereby leading to very high blood sugar levels. MODY is inherited in an autosomal dominant manner and cases can also arise de-novo (for the first time) in the affected individual. 
The Igenomix Maturity Onset Diabetes of the Young and Neonatal Diabetes Precision Panel can be used to make a directed and accurate differential diagnosis of neonatal and paediatric hyperglycemia ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix MODY and Neonatal Diabetes Mellitus Precision Panel is indicated for those patients with clinical suspicion of diabetes presenting with the following manifestations:

Diabetes under the age of 35 
Family history 
Frequent urination 
Thirst   
Dehydration   
Blurry vision
Recurrent skin infections
Recurrent yeast infections

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team for early insulin therapy, dietary modifications, and primary prevention to reduce comorbidities associated with diabetes.
Risk assessment of asymptomatic family members according to the mode of inheritance.

Genes & Diseases

See all genes & diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ABCC8*	Diabetes Mellitus, Hyperinsulinemic Hypoglycemia, Hypoglycemia Of Infancy, Dend Syndrome, MODY	AD,AR	99.98	710 of 712
*AGPAT2*	Berardinelli-Seip Congenital Lipodystrophy	AR	100	42 of 43
*AKT2*	Diabetes Mellitus, Hypoinsulinemic Hypoglycemia	AD	94.99	5 of 6
*APPL1*	MODY	AD	99.91	4 of 4
*BLK*	MODY	AD	100	21 of 21
*BSCL2*	Berardinelli-Seip Congenital Lipodystrophy	AD,AR	99.83	60 of 61
*CAV1*	Pulmonary Hypertension, Berardinelli-Seip Congenital Lipodystrophy, Cutaneous Systemic Sclerosis	AD,AR	100	18 of 18
*CEL*	MODY	AD	91.14	30 of 31
*CISD2*	Wolfram Syndrome	AR	92.92	5 of 5
CP	Aceruloplasminemia	AR	99.91	58 of 59
*EIF2AK3*	Epiphyseal Dysplasia, Wolcott-Rallison Syndrome	AR	99.3	89 of 89
*FOXP3*	Immunodysregulation, Enteropathy	X,XR,G	99.86	–
*GATA4*	Atrioventricular Septal Defect, Tetralogy Of Fallot, 8p23.1 Microdeletion Syndrome	AD	94.69	108 of 130
*GATA6*	Atrioventricular Septal Defect, Conotruncal Heart Malformations, Pancreatic Agenesis, Tetralogy Of Fallot, Congenital Diaphragmatic Hernia, Diabetes	AD,AR	84.19	66 of 84
*GCK*	Diabetes Mellitus, Hyperinsulinemic Hypoglycemia, MODY	AD,AR	100	905 of 909
*GLIS3*	Diabetes Mellitus	AR	99.83	21 of 21
*GLUD1*	Hyperinsulinemic Hypoglycemia	AD	99.98	39 of 39
*HADH*	Hyperinsulinemic Hypoglycemia	AR	96.71	26 of 27
*HNF1A*	Diabetes Mellitus, Hepatic Adenomas, Hyperinsulinism, MODY	AD	100	529 of 538
*HNF1B*	Diabetes Mellitus, 17q12 Microdeletion Syndrome	AD	100	219 of 220
*HNF4A*	Diabetes Mellitus, Hyperinsulinism, MODY	AD	100	172 of 174
*IER3IP1*	Microcephaly, Epilepsy, Diabetes	AR	99.97	5 of 5
*INS*	Diabetes Mellitus, Hyperproinsulinemia, MODY	AD,AR	100	78 of 84
*INSR*	Donohue Syndrome, Hyperinsulinemic Hypoglycemia, Diabetes Mellitus, Hyperinsulinism, Rabson-Mendenhall Syndrome	AD,AR	98.03	181 of 184
*KCNJ11*	Diabetes Mellitus, Hyperinsulinemic Hypoglycemia, Dend Syndrome, MODY	AD,AR	100	190 of 191
*KLF11*	MODY	AD	99.87	10 of 10
*LM-*	Charcot-Marie-Tooth Disease, Emery-Dreifuss Muscular Dystrophy, Heart-Hand Syndrome, Hutchinson-Gilford Progeria Syndrome , Malouf Syndrome	AD,AR	100	619 of 620
*MNX1*	Currarino Syndrome	AD	65.7	46 of 65
*NEUROD1*	Diabetes Mellitus, MODY	AD	99.94	23 of 24
*NEUROG3*	Enteric Anendocrinosis	AR	100	11 of 11
*NKX2-2*	MODY, Neo-Yal Diabetes, Pancreatic Agenesis	–	99.91	3 of 3
*NKX6-1*	MODY, Pancreatic Agenesis, Diabetes Mellitus	–	74.25	2 of 2
*PAX4*	Diabetes Mellitus, MODY	AD,AR,MU	100	21 of 21
*PDX1*	Diabetes Mellitus, MODY, Pancreatic Agenesis	AD,AR	98.02	32 of 36
*PPARG*	Diabetes Mellitus, Obesity, Berardinelli-Seip Congenital Lipodystrophy	AD,AR,MU,P	99.94	53 of 53
*PTF1A*	Pancreatic Agenesis, Diabetes Mellitus	AR	82.09	4 of 15
*RFX6*	Mitchell-Riley Syndrome	AR	100	34 of 34
*SLC16A1*	Erythrocyte Lactate Transporter Defect, Hyperinsulinemic Hypoglycemia, Monocarboxylate Transporter 1 Deficiency	AD,AR	99.68	12 of 14
*SLC19A2*	Thiamine- Responsive Megaloblastic Anemia Syndrome	AR	99.99	67 of 68
*SLC2A2*	Diabetes Mellitus, Fanconi-Bickel Syndrome	AD,AR	100	75 of 79
*UCP2*	Hyperinsulinism	–	100	7 of 7
*WFS1*	Diabetes Mellitus, Wolfram Syndrome	AD,AR	99.97	390 of 395
*ZFP57*	Diabetes Mellitus	AD	100	15 of 15

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance

** HGMD: Number of clinically relevant mutations according to HGMD

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Maturity Onset Diabetes of the Young and Neonatal Diabetes Precision Panel – 43 genes

Maturity-onset diabetes of the young (MODY) and Neonatal Diabetes Mellitus are a heterogeneous group of inherited monogenic and polygenic disorders that are present during adolescence or young adulthood and affect an individual’s blood sugar level due to beta cell dysfunction.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Detail description

Request Information

Maturity-onset diabetes of the young (MODY) and Neonatal Diabetes Mellitus are a heterogeneous group of inherited monogenic and polygenic disorders that are present during adolescence or young adulthood and affect an individual’s blood sugar level due to beta cell dysfunction.