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

MP1297

Number of genes

6 Accredited laboratory test

Examined sequence length

2,4 kb (Core-/Core-canditate-Genes)
15,4 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
HEPACAM	1251	611642	NM_152722.5	AD, AR
MLC1	1134	605908	NM_015166.4	AR
ASPA	942	608034	NM_000049.4	AR
GFAP	1299	137780	NM_002055.5	AD
L2HGDH	1392	609584	NM_024884.3	AR
LAMA2	9369	156225	NM_000426.4	AR

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined