Deutsch
IllnessMorbus Alexander
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Morbus Alexander
ID
AS7285
Number of genes
1
Accredited laboratory test
Examined sequence length
1,3 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (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 |
|---|---|---|---|---|
| GFAP | 1299 | NM_002055.5 | AD |
Informations about the disease
Clinical Comment
Neurodegenerative disorder of astrocytes, clinical forms: Alexander disease type I + II with various degrees of macrocephaly, spasticity, ataxia + seizures, leading to psychomotor regression, death
Synonyms
- 3 forms of Alexander disease based on age of onset: infantile, juvenile, adult
- Alias: Alexander disease
Heredity, heredity patterns etc.
- AD
OMIM-Ps
ICD10 Code
E75.2
Bioinformatics and clinical interpretation
No text defined