Date

Field

Changed From

Changed To

External Laboratory

Neurogenetics Unit, Level 2, Royal Perth Hospital

Pathwest Lab Med WA

Frequency

As required

Method

Packed by certified personnel

Dr M Davis, Neurogenetics Unit, DPT of Anatomical Pathology, Level 2, North Block, RPA, Wellington Street, PERTH, WA 6000

(Ph) 08-92243136.

Packed by certified personnel

Dr M Davis, Diagnostic Genomics, Level 2

C/O Specimen Reception Ground Floor PP Building

QEII Medical Centre Hospital Avenue

Nedlands WA 6009 AUSTRALIA

(Ph) 08-63834243

Notes

Defects in NOTCH3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) . CADASIL causes a type of stroke and dementia of which key features include recurrent subcortical ischemic events and vascular dementia. The disorder affects relatively young adults of both sexes. Mutations affect highly conserved cysteine residues within epidermal growth factor (EGF)-like repeat domains in the extracellular part of the receptor.

Defects in NOTCH3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) . CADASIL causes a type of stroke and dementia of which key features include recurrent subcortical ischemic events and vascular dementia. The disorder affects relatively young adults of both sexes. Mutations affect highly conserved cysteine residues within epidermal growth factor (EGF)-like repeat domains in the extracellular part of the receptor.