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

IllnessMegalencephalic leukoencephalopathy with subcortical cysts, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Megalencephalic leukoencephalopathy with subcortical cysts comprising 8 curated genes according to the clinical signs

ID
MP1297
Number of genes
7 Accredited laboratory test
Examined sequence length
2,4 kb (Core-/Core-canditate-Genes)
17,1 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
HEPACAM1251NM_152722.5AD, AR
MLC11134NM_015166.4AR
ASPA942NM_000049.4AR
GFAP1299NM_002055.5AD
HEXB1671NM_000521.4AR
L2HGDH1392NM_024884.3AR
LAMA29369NM_000426.4AR

Informations about the disease

Synonyms
  • Alexander disease (GFAP)
  • Alias: Leukodystrophie, megalenzephale
  • Alias: Megalenzephalie - zystische Leukodystrophie
  • Alias: Muscular dystrophy, congenital, merosin deficient or partially deficient (LAMA2)
  • Alias: Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
  • Alias: Vakuolisierende Myelinonopathie mit subkortikalen Zysten
  • Alias: Van der Knaap-Syndrom
  • Allelic: Mucopolysaccharidosis type IV (GLB1)
  • Canavan disease (ASPA)
  • GM1-gangliosidosis, types I, II, III (GLB1)
  • L-2-hydroxyglutaric aciduria (L2HGDH)
  • Laminin alpha 2 deficiency [rarely with cysts] (LAMA2)
  • Megalencephalic leukoencephalop. + subcort. cysts 2B, remitting, with/-out ment. retard. (HEPACAM)
  • Megalencephalic leukoencephalopathy + subcortical cysts (MLC1)
  • Megalencephalic leukoencephalopathy + subcortical cysts 2A (HEPACAM)
  • Sandhoff disease, infantile, juvenile + adult forms (HEXB)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined