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

IllnessEAST syndrome

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion East syndrome

ID
ES5060
Number of genes
1 Accredited laboratory test
Examined sequence length
1,2 kb (Core-/Core-canditate-Genes)
- (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
KCNJ101140NM_002241.5AR

Informations about the disease

Clinical Comment

Seizures, sensorineural deafness, ataxia, intellectual deficit, electrolyte imbalance (hypokalemia, metabolic alkalosis, hypomagnesemia)

 

Synonyms
  • Allelic: Enlarged vestibular aqueduct, digenic (KCNJ10)
  • Allelic: SeSAME-Syndrom (KCNJ10)
  • Epilepsy, ataxia, sensorineural deafness + tubulopathy (KCNJ10)
  • Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome (KCNJ10)
  • Seizures, sensorineural deafness, ataxia, mental retardation + electrolyte imbalance (KCNJ10)
  • Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndr. (KCNJ10)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code
G40.4

Bioinformatics and clinical interpretation

No text defined