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IllnessAbsence epilepsy, atypical; differential diagnosis

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Summary

Short information

A panel comprising 1 guideline-curated or altogether 12 curated genes for the most frequent monogenic forms of atypic absence epilepsies

ID
AP7223
Number of loci
Loci typeCount
Gen8
Accredited laboratory test
Examined sequence length
13,2 kb (Core-/Core-canditate-Genes)
18,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ALDH5A11608NM_001080.3AR
EPM2A996NM_005670.4AR
NHLRC11188NM_198586.3AR
SCN1A6030NM_001165963.4AD
SLC2A11479
  • No OMIM-Gs linked
NM_006516.4AD, AR
STXBP11812NM_003165.6AD
CACNA2D23438NM_001005505.3AR
DYRK1A2292NM_001396.5AD

Informations about the disease

Clinical Comment

illness_ClinicalComment_AP7223

 

Synonyms
  • Allelic: Dravet syndrome (SCN1A)
  • Allelic: Dystonia 9 (SLC2A1)
  • Allelic: Epilepsy, generalized, with febrile seizures plus, type 2 (SCN1A)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
  • Allelic: Febrile seizures, familial, 3A (SCN1A)
  • Allelic: Febrile seizures, familial, 8 (GABRG2)
  • Allelic: Migraine, familial hemiplegic, 3 (SCN1A)
  • Allelic: Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
  • Cerebellar atrophy with seizures + variable developmental delay (CACNA2D2)
  • D-2-hydroxyglutaric aciduria (D2HGDH)
  • Developmental + epileptic encephalopathy 19 (GABRA1)
  • Developmental + epileptic encephalopathy 4 (STXBP1)
  • Developmental + epileptic encephalopathy 43 (GABRB3)
  • Developmental + epileptic encephalopathy 74 (GABRG2)
  • Epilepsy, childhood absence, susceptibility to, 4 (GABRA1)
  • Epilepsy, childhood absence, susceptibility to, 5 (GABRB3)
  • Epilepsy, juvenile myoclonic, susceptibility to, 5 (GABRA1)
  • Epilepsy, progressive myoclonic 2A [Lafora] (EPM2A)
  • Epilepsy, progressive myoclonic 2B [Lafora] (NHLRC1)
  • GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
  • GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
  • Generalized epilepsy with febrile seizures plus, type 3 (GABRG2)
  • Mental retardation, AD 7 (DYRK1A)
  • Succinic semialdehyde dehydrogenase deficiency (ALDH5A1)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined