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)
17,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
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