Pathology

Test & Collection Guide

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CADASIL-Notch 3 gene mutation

Ordering information:

This test is not covered by medicare.

Cost of this test for a patient is $1320 (please sign the PathWest consent form)

Laboratory:

Referred Test

Test Code:

GENE

Specimen types:

Blood

Container types:

EDTA

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.

Frequency:

As required

Result Turnaround Time:

16 weeks

Laboratory Use Only

Laboratory Notes:

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

External Laboratory:

Pathwest Lab Med WA

External Laboratory details...