ABCC8 gene related symptoms and diseases

All the information presented here about the ABCC8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ABCC8 gene

Symptoms // Phenotype % Cases
Hyperglycemia Uncommon - Between 30% and 50% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Coma Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ABCC8 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Global developmental delay
  • Type II diabetes mellitus
  • Rarely - Less than 30% cases

  • Bilateral ptosis
  • Insulin resistance
  • Prominent metopic ridge
  • Dehydration
  • Transient neonatal diabetes mellitus
  • Hyperinsulinemic hypoglycemia

And 106 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ABCC8 gene

Here you will find a list of rare diseases related to the ABCC8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


TRANSIENT NEONATAL DIABETES MELLITUS


Alternate names

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3, tndm

Description

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

Most common symptoms of TRANSIENT NEONATAL DIABETES MELLITUS

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


More info about TRANSIENT NEONATAL DIABETES MELLITUS

SOURCES: ORPHANET OMIM

DIABETES MELLITUS, TRANSIENT NEONATAL, 2


Alternate names

DIABETES MELLITUS, TRANSIENT NEONATAL, 2 Is also known as tndm2

Most common symptoms of DIABETES MELLITUS, TRANSIENT NEONATAL, 2

  • Type II diabetes mellitus
  • Transient neonatal diabetes mellitus


More info about DIABETES MELLITUS, TRANSIENT NEONATAL, 2

SOURCES: OMIM

HYPOGLYCEMIA, LEUCINE-INDUCED; LIH


Alternate names

HYPOGLYCEMIA, LEUCINE-INDUCED; LIH Is also known as leucine-sensitive hypoglycemia of infancy

Most common symptoms of HYPOGLYCEMIA, LEUCINE-INDUCED; LIH

  • Intellectual disability
  • Seizures
  • Ataxia
  • Strabismus
  • Spasticity


More info about HYPOGLYCEMIA, LEUCINE-INDUCED; LIH

SOURCES: OMIM MESH

MODY


Alternate names

MODY Is also known as maturity-onset diabetes of the young, mason-type diabetes

Description

MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.

Most common symptoms of MODY

  • Hypertension
  • Diabetes mellitus
  • Retinopathy
  • Type II diabetes mellitus
  • Insulin resistance


More info about MODY

SOURCES: OMIM ORPHANET

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1


Alternate names

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 Is also known as persistent hyperinsulinemic hypoglycemia of infancy, hyperinsulinism, congenital, hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia, hypoglycemia, hyperinsulinemic, of infancy, hyperinsulinism, familial, with pancreatic nesidioblastosis, phhi,

Description

Familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur (Thornton et al., 1998). Genetic Heterogeneity of Hyperinsulinemic HypoglycemiaHHF2 (OMIM ) is caused by mutation in the KCNJ11 gene (OMIM ) on chromosome 11p15. HHF3 (OMIM ) is caused by mutation in the glucokinase gene (GCK ) on chromosome 7p13. HHF4 (OMIM ) is caused by mutation in the HADH gene (OMIM ) on chromosome 4q25. HHF5 (OMIM ) is caused by mutation in the insulin receptor gene (INSR ) on chromosome 19p13. HHF6 (OMIM ) is caused by mutation in the GLUD1 gene (OMIM ) on chromosome 10q23. HHF7 (OMIM ) is caused by mutation in the SLC16A1 (OMIM ) on chromosome 1p13. There is evidence of further genetic heterogeneity of HHF.

Most common symptoms of HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

  • Intellectual disability
  • Neoplasm
  • Diabetes mellitus
  • Hypoglycemia
  • Coma


More info about HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

SOURCES: OMIM

PERMANENT NEONATAL DIABETES MELLITUS


Alternate names

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy, pndm

Description

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

Most common symptoms of PERMANENT NEONATAL DIABETES MELLITUS

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


More info about PERMANENT NEONATAL DIABETES MELLITUS

SOURCES: ORPHANET

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM


Alternate names

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy, pdmi

Description

Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

Most common symptoms of DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

SOURCES: OMIM ORPHANET

DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM


Alternate names

DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM Is also known as noninsulin-dependent diabetes mellitus, maturity-onset diabetes, diabetes mellitus, type ii, t2d

Most common symptoms of DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

  • Diabetes mellitus
  • Type II diabetes mellitus
  • Insulin resistance
  • Type I diabetes mellitus
  • Hyperinsulinemia


More info about DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

SOURCES: OMIM ORPHANET

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY


Alternate names

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY Is also known as autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency

Description

Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term).

Most common symptoms of AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY

SOURCES: ORPHANET

DIAZOXIDE-RESISTANT FOCAL HYPERINSULINISM DUE TO SUR1 DEFICIENCY


Alternate names

DIAZOXIDE-RESISTANT FOCAL HYPERINSULINISM DUE TO SUR1 DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to sur1 deficiency, diazoxide-resistant focal form

Description

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency is a rare congenital isolated hyperinsulinism characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia due to an excessive insulin secretion by the pancreatic bêta-cells. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. The disease is associated with homozygosity of a paternally inherited mutation of ABCC8 (encoding the sulfonylurea receptor (SUR1) subunit of the pancreatic ATP-sensitive potassium channel) in the hyperplastic pancreatic islets, most commonly a result of a heterozygous paternally inherited mutation and a somatic event, leading to the loss of the maternal allele.


More info about DIAZOXIDE-RESISTANT FOCAL HYPERINSULINISM DUE TO SUR1 DEFICIENCY

SOURCES: ORPHANET

AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO SUR1 DEFICIENCY


Alternate names

AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO SUR1 DEFICIENCY Is also known as autosomal recessive hyperinsulinemic hypoglycemia due to sur1 deficiency


More info about AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO SUR1 DEFICIENCY

SOURCES: ORPHANET


Potential gene panels for ABCC8 gene

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Complete Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Female) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1

More info about this panel

GeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Male) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1

More info about this panel

Congenital Hyperinsulinism Evaluation Panel

United States.

By Athena Diagnostics Inc Congenital Hyperinsulinism Evaluation that also includes the following genes: GCK GLUD1 ABCC8 KCNJ11

More info about this panel

Neonatal Diabetes Mellitus Evaluation Panel

United States.

By Athena Diagnostics Inc Neonatal Diabetes Mellitus Evaluation that also includes the following genes: GCK ABCC8 INS PDX1 KCNJ11

More info about this panel

ABCC8 (NDM) DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the ABCC8 gene.

More info about this panel

ABCC8 (CH) DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the ABCC8 gene.

More info about this panel

Ashkenazi Jewish Carrier Screening Panel Panel

United States.

By Center for Human Genetics, Inc Ashkenazi Jewish Carrier Screening Panel that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 TMEM216 DLD F11 FANCC FKTN

More info about this panel

Maturity-Onset Diabetes of the Young Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Maturity-Onset Diabetes of the Young that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 IER3IP1 RFX6 CP

More info about this panel

Level 1: Congenital Hyperinsulinisim Panel Panel

United States.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Level 1: Congenital Hyperinsulinisim Panel that also includes the following genes: GCK GLUD1 ABCC8 KCNJ11

More info about this panel

Level 2: Expanded Congenital Hyperinsulinism Panel Panel

United States.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Level 2: Expanded Congenital Hyperinsulinism Panel that also includes the following genes: SLC16A1 GCK GLUD1 HADH ABCC8 KCNJ11

More info about this panel

Maturity-onset Diabetes of the Young Panel Panel

United States.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Maturity-onset Diabetes of the Young Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL AKT2 GCK HNF4A ABCC8 INS

More info about this panel

MODY Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago MODY Deletion/Duplication Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL APPL1 GCK HNF4A ABCC8 INS

More info about this panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel

Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism Panel

United States.

By Genetic Services Laboratory University of Chicago Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism that also includes the following genes: GCK ABCC8 KCNJ11

More info about this panel

Comprehensive Neonatal Diabetes Mutation Analysis Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Neonatal Diabetes Mutation Analysis that also includes the following genes: ZFP57 EIF2AK3 GATA4 GATA6 GCK MNX1 HYMAI ABCC8 INS FOXP3

More info about this panel

Comprehensive Familial Hyperinsulinism Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Familial Hyperinsulinism Panel that also includes the following genes: SLC16A1 HNF1A UCP2 KDM6A GCK GLUD1 HADH HNF4A ABCC8 INSR

More info about this panel

MODY Panel Panel

United States.

By Genetic Services Laboratory University of Chicago MODY Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL APPL1 GCK HNF4A ABCC8 INS

More info about this panel

Neonatal Diabetes Mellitus Deletion/Duplication Analysis Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus Deletion/Duplication Analysis that also includes the following genes: ZFP57 EIF2AK3 GCK ABCC8 INS FOXP3 PDX1 KCNJ11

More info about this panel

Neonatal Diabetes Mellitus Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus Sequencing Panel that also includes the following genes: ZFP57 EIF2AK3 GATA4 GATA6 GCK MNX1 ABCC8 INS FOXP3 PDX1

More info about this panel

Ashkenazi Jewish Diseases, 16 Genes Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Ashkenazi Jewish Diseases, 16 Genes that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 TMEM216 DLD FANCC G6PC HEXA

More info about this panel

ABCC8-Related Hyperinsulinism, 3 Variants Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the ABCC8 gene.

More info about this panel

ABCC8 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the ABCC8 gene.

More info about this panel

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

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ABCC8 gene.

More info about this panel

ABCC8. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ABCC8 gene.

More info about this panel

ABCC8. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ABCC8 gene.

More info about this panel

Permanent Neonatal Diabetes Mellitus (sequence analysis of ABCC8 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ABCC8 gene.

More info about this panel

Permanent neonatal diabetes mellitus (deletion/duplication analysis of ABCC8 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ABCC8 gene.

More info about this panel

Hyperinsulinemic hypoglycemia, familial, 1 (sequence analysis of ABCC8 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ABCC8 gene.

More info about this panel

Hyperinsulinemic hypoglycemia, familial, 1 (deletion/duplication analysis of ABCC8 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ABCC8 gene.

More info about this panel

MODY (NGS panel for 13 genes) Panel

Portugal.

By CGC Genetics MODY (NGS panel for 13 genes) that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL GCK HNF4A ABCC8 INS PDX1

More info about this panel

Diabetes mellitus permanent neonatal (NGS panel for 13 genes) Panel

Portugal.

By CGC Genetics Diabetes mellitus permanent neonatal (NGS panel for 13 genes) that also includes the following genes: SLC19A2 HNF1B IER3IP1 RFX6 PTF1A GLIS3 GATA6 GCK ABCC8 INS

More info about this panel

Familial hyperinsulinism (NGS panel of 9 genes) Panel

Portugal.

By CGC Genetics Familial hyperinsulinism (NGS panel of 9 genes) that also includes the following genes: SLC16A1 UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR KCNJ11

More info about this panel

Familial hyperinsulinism (NGS panel of 9 genes) Panel

Portugal.

By CGC Genetics Familial hyperinsulinism (NGS panel of 9 genes) that also includes the following genes: SLC16A1 UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR KCNJ11

More info about this panel

Permanent neonatal diabetes mellitus Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Permanent neonatal diabetes mellitus that also includes the following genes: GCK ABCC8 INS KCNJ11

More info about this panel

Permanent neonatal diabetes mellitus Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Permanent neonatal diabetes mellitus that also includes the following genes: GCK ABCC8 INS KCNJ11

More info about this panel

Neonatal Diabetes Mellitus Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Neonatal Diabetes Mellitus that also includes the following genes: ZFP57 GCK ABCC8 INS PDX1 KCNJ11

More info about this panel

Hyperinsulinemic hypoglycemia, familial, 1 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the ABCC8 gene.

More info about this panel

Transient neonatal diabetes mellitus 2 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the ABCC8 gene.

More info about this panel

Hypoglycemia of infancy, leucine-sensitive Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the ABCC8 gene.

More info about this panel

ABCC8-Related Hyperinsulinism Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the ABCC8 gene.

More info about this panel

Congenital Hyperinsulinism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Hyperinsulinism Sequencing Panel with CNV Detection that also includes the following genes: SLC16A1 HNF1A UCP2 GCK GLUD1 HADH HNF4A ABCC8 KCNJ11

More info about this panel

ABCC8-Related Congenital Hyperinsulinism via ABCC8 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ABCC8 gene.

More info about this panel

Maturity Onset Diabetes of the Young (MODY) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Maturity Onset Diabetes of the Young (MODY) Sequencing Panel with CNV Detection that also includes the following genes: BLK HNF1A HNF1B KLF11 APPL1 GCK HNF4A ABCC8 INS PDX1

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Department of Clinical Genetics Panel

Slovakia.

By Department of Clinical Genetics St. Elisabeth Cancer Institute

This panel specifically test the ABCC8 gene.

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ABCC8 Panel

Slovakia.

By Department of Clinical Genetics St. Elisabeth Cancer Institute

This panel specifically test the ABCC8 gene.

More info about this panel

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3

More info about this panel

Neonatal Diabetes Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Neonatal Diabetes that also includes the following genes: GCK ABCC8 KCNJ11

More info about this panel

Hyperinsulinism Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Hyperinsulinism that also includes the following genes: GCK GLUD1 ABCC8 KCNJ11

More info about this panel

Ashkenazi panel (advanced) Panel

Germany.

By Centogene AG - the Rare Disease Company Ashkenazi panel (advanced) that also includes the following genes: BLM CLRN1 MCOLN1 PCDH15 CFTR DLD FANCC G6PC GBA HEXA

More info about this panel

MODY panel Panel

Germany.

By Centogene AG - the Rare Disease Company MODY panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL ZFP57 RFX6 GCK HNF4A ABCC8

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Hyperinsulinemic hypoglycemia familial 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ABCC8 gene.

More info about this panel

ABCC8-Related Hyperinsulinism Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum ABCC8-Related Hyperinsulinism that also includes the following genes: GCK GLUD1 HADH HNF4A ABCC8 PDX1 KCNJ11

More info about this panel

Diabetes mellitus, permanent neonatal, ABCC8 Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the ABCC8 gene.

More info about this panel

Ashkenazi Jewish diseases Panel

Estonia.

By Asper Biogene Asper Biogene LLC Ashkenazi Jewish diseases that also includes the following genes: BLM BRCA1 BRCA2 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 LRRK2 CFTR

More info about this panel

Maturity Onset Diabetes of the Young (MODY) Panel

Estonia.

By Asper Biogene Asper Biogene LLC Maturity Onset Diabetes of the Young (MODY) that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL ZFP57 RFX6 GCK HNF4A ABCC8

More info about this panel

Familial Hyperinsulinism, ABCC8 sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the ABCC8 gene.

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Family Prep Screen Panel

United States.

By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5

More info about this panel

Hyperinsulinemic-hypoglycemia type 1, Familial: ABCC8 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ABCC8 gene.

More info about this panel

Diabetes mellitus, neonatal permanent Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Diabetes mellitus, neonatal permanent that also includes the following genes: SLC19A2 HNF1B WFS1 NEUROG3 RFX6 PTF1A GLIS3 EIF2AK3 GATA6 GCK

More info about this panel

FAMILIAR HYPERINSULINISM AND HYPERAMMONEMIA Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases FAMILIAR HYPERINSULINISM AND HYPERAMMONEMIA that also includes the following genes: SLC16A1 SLC25A15 HNF1A UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR

More info about this panel

Endocrine Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Sequencing Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24

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Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

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Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC

More info about this panel

Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC

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Endocrine Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Deletion/Duplication Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24

More info about this panel

Inheritest NGS, Ashkenazi Jewish Ancestry Panel Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Ashkenazi Jewish Ancestry Panel that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR SUMF1 DHDDS

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Familial Hyperinsulinism Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the ABCC8 gene.

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Ashkenazi Jewish Carrier Testing Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Ashkenazi Jewish Carrier Testing that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC FKTN

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Inheritest NGS, Comprehensive Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3

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Diabetes-Obesity NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Diabetes-Obesity NGS Panel that also includes the following genes: BDNF SDCCAG8 SIM1 HNF1A HNF1B WFS1 ARL6 NEUROG3 TRIM32 CEL

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Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

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Hyperinsulinism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hyperinsulinism NGS Panel that also includes the following genes: SLC16A1 UCP2 GCK GLUD1 HADH HNF4A ABCC8 INS INSR PDX1

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Lysosomal Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2

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MODY Neonatal Diabetes NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics MODY Neonatal Diabetes NGS Panel that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 CEL IER3IP1 ZFP57

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Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

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ABCC8 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ABCC8 gene.

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Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

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Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

Finland.

By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2

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MODY Panel Panel

Finland.

By Blueprint Genetics MODY Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 RFX6 GCK HNF4A ABCC8 INS PDX1

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Comprehensive Monogenic Diabetes Panel Panel

Finland.

By Blueprint Genetics Comprehensive Monogenic Diabetes Panel that also includes the following genes: BLK SLC16A1 SLC2A2 HNF1A HNF1B KLF11 UCP2 WFS1 NEUROG3 ZFP57

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Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

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Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel

Finland.

By Blueprint Genetics Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel that also includes the following genes: SLC16A1 SLC2A2 HNF1A UCP2 RBCK1 NHLRC1 PTF1A ACSF3 AGL ENO3

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Diabetes mellitus, transient neonatal 2 Panel

Spain.

By Bioarray

This panel specifically test the ABCC8 gene.

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Autosomal recessive hyperinsulinism due to SUR1 deficiency Panel

Spain.

By Bioarray

This panel specifically test the ABCC8 gene.

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Familial Hyperinsulinism NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Familial Hyperinsulinism NGS and Deletion/Duplication Panel that also includes the following genes: SLC16A1 HNF1A UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR KCNJ11

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ABCC8 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the ABCC8 gene.

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Maturity-Onset Diabetes of the Young NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Maturity-Onset Diabetes of the Young NGS and Deletion/Duplication Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL GCK HNF4A ABCC8 INS PDX1

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Monogenic Diabetes NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Monogenic Diabetes NGS and Deletion/Duplication Panel that also includes the following genes: BLK SLC16A1 SLC2A2 HNF1A HNF1B KLF11 UCP2 WFS1 NEUROG3 CEL

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Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

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High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

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DIABETES MELLITUS, NEONATAL Panel

Spain.

By Laboratorio de Genetica Clinica SL DIABETES MELLITUS, NEONATAL that also includes the following genes: ABCC8 KCNJ11

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DIABETES MODY & NEONATAL DIABETES : NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL DIABETES MODY & NEONATAL DIABETES : NGS PANEL that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 NEUROG3 IER3IP1 ZFP57 RFX6 PTF1A

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FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM) NGS PANEL that also includes the following genes: SLC16A1 GCK GLUD1 HADH ABCC8 INSR KCNJ11

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MODY panel Panel

Canada.

By LifeLabs Genetics MODY panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL ZFP57 RFX6 GCK HNF4A ABCC8

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Transient Neonatal Diabetes Mellitus Type 2 , Sequencing ABCC8 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ABCC8 gene.

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Familial Hypoglycemia Hyperinsulinemia Type 1 , Sequencing ABCC8 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ABCC8 gene.

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Familial Hypoglycemia Hyperinsulinemia Type 1, Mutations (Val187Asp, delPhe1388,c.3989-9 G>A) ABCC8 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ABCC8 gene.

More info about this panel

Familial Hypoglycemia Hyperinsulinemia Type 1 , Deletions-Duplications (MLPA) ABCC8 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ABCC8 gene.

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Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes Panel

Spain.

By Reference Laboratory Genetics Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: SLC19A2 HNF1B WFS1 NEUROG3 RFX6 PTF1A GLIS3 EIF2AK3 GATA6 GCK

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Hyperinsulinism-Hyperammonemia syndrome , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Hyperinsulinism-Hyperammonemia syndrome , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: SLC16A1 SLC25A15 HNF1A UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR

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Familial Hypoglycemia Hyperinsulinemia , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Hypoglycemia Hyperinsulinemia , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SLC16A1 GCK GLUD1 HADH ABCC8 INSR KCNJ11

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planTrue Extended Panel

United States.

By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1

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planTrue Standard Panel

United States.

By True Health Diagnostics planTrue Standard that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC

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planTrue Jewish Screen Panel

United States.

By True Health Diagnostics planTrue Jewish Screen that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

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Permanent Neonatal Diabetes Mellitus: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Permanent Neonatal Diabetes Mellitus: gene sequencing panel that also includes the following genes: GCK ABCC8 INS PDX1 KCNJ11

More info about this panel

Familial Hyperinsulinism: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Familial Hyperinsulinism: gene sequencing panel that also includes the following genes: UCP2 GCK GLUD1 HADH HNF4A ABCC8 KCNJ11

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