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

IllnessMEPAN syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for MEPAN syndrome comprising 8 curated genes according to the clinical signs

ID
MP1299
Number of genes
7 Accredited laboratory test
Examined sequence length
1,4 kb (Core-/Core-canditate-Genes)
29,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS + X

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
MECR1392AR
ATP7B4398AR
D2HGDH1566AR
GCDH1317AR
HTT9429AD
SLC19A31491AR
VPS13A9408AR

Informations about the disease

Synonyms
  • Alias: Dystonia, childhood-onset, with optic atrophy + basal ganglia abnormalities (MECR)
  • Alias: MECR-Related Neurologic Disorder
  • Alias: Mitochondrial Enoyl CoA reductase Protein-Associated Neurodegeneration, MEPAN (MECR)
  • Allelic: Huntington disease (HTT_CAG)
  • Choreoacanthocytosis (VPS13A)
  • Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1)
  • D-2-hydroxyglutaric aciduria (D2HGDH)
  • Dentatorubral-pallidoluysian atrophy (ATN1_CAG)
  • Glutaricaciduria, type I (GCDH)
  • Lopes-Maciel-Rodan syndrome (HTT)
  • Thiamine metabolism dysfunction s., biotin-/thiamine-responsive encephalopathy type 2 (SLC19A3)
  • Wilson disease (ATP7B)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E88.8

Bioinformatics and clinical interpretation

No text defined