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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessGlucose transporter type 1 deficiency syndrome, classic; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Glucose Transporter Type 1 Deficiency Syndrome comprising altogether 18 curated genes according to the clinical signs

ID
GP1773
Number of genes
15 Accredited laboratory test
Examined sequence length
1,5 kb (Core-/Core-canditate-Genes)
31,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SLC2A11479
  • No OMIM-Gs linked
NM_006516.4AD, AR
ABCC84746NM_000352.6AD, AR
CACNA1D6546NM_000720.4AR
GCK1398NM_000162.5AD, AR
GLUD11677NM_005271.5AD
HADH945NM_005327.7AR
HK12754NM_000188.3AD
HNF1A1896NM_000545.8AD
HNF4A1359NM_175914.4AD
KCNJ111173NM_000525.4AD, AR
MECP21461NM_004992.4XL
PMM2741NM_000303.3AR
SLC16A11503NM_003051.4AD, AR
UBE3A2559NM_130838.4AD
UCP2930NM_003355.3AD

Informations about the disease

Synonyms
  • Alias: De Vivo Disease
  • Alias: Encephalopathy due to GLUT1 deficiency
  • Alias: Glucose transport defect, blood-brain barrier
  • Alias: Glucose transporter protein syndrome
  • Alias: Glucose transporter type 1 deficiency syndrome
  • Alias: Glut1 Deficiency Syndrome
  • 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH)
  • Angelman syndrome (UBE3A)
  • Congenital disorder of glycosylation, type Ia (PMM2)
  • Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
  • Diabetes mellitus, insulin-dependent, 20 (HNF1A)
  • Diabetes mellitus, transient neonatal 3 (KCNJ11)
  • Diabetes, permanent neonatal 2, with/-out neurologic features (KCNJ11)
  • Encephalopathy, neonatal severe (MECP2)
  • Episodic kinesigenic dyskinesia 1 (PRRT2)
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young (HNF4A)
  • Glucose Transporter Type 1 Deficiency Syndrome (SLC2A1)
  • Hyperinsulinemic hypoglycemia, familial, 1 (ABCC8)
  • Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
  • Hyperinsulinemic hypoglycemia, familial, 3 (GCK)
  • Hyperinsulinemic hypoglycemia, familial, 4 (HADH)
  • Hyperinsulinemic hypoglycemia, familial, 7 (SLC16A1)
  • Hyperinsulinism-hyperammonemia syndrome (GLUD1)
  • Hypoglycemia of infancy, leucine-sensitive (ABCC8)
  • MODY, type I (HNF4A)
  • MODY, type III (HNF1A)
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1)
  • Neurodevelopmental disorder with visual defects and brain anomalies (HK1)
  • Obesity, susceptibility to, BMIQ4 (UCP2)
  • Paroxysmal nonkinesigenic dyskinesia 1 (PNKD)
  • Primary aldosteronism, seizures, and neurologic abnormalities (CACNA1D)
  • Rett syndrome (MECP2)
  • Rett syndrome, atypical (MECP2)
  • Rett syndrome, preserved speech variant (MECP2)
  • Seizures, benign familial infantile, 2 (PRRT2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined