CARASIL (HTRA1)
(Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2)
Sideindhold
OMIM
| 602194
|
Gen
| HTRA1
|
Arvegang
| Autosomal recessiv, autosomal dominant.
|
Mutationer
| Over hele genet.
|
Analysemetode
| NGS sekventering af exon 1-9 (NM_002775.4). Analysen indeholder tillige sekventering af NOTCH2 (CADASIL)
|
Svartid
| 6-8 uger.
|