CADASIL (sequence of exons 3, 4; most frequent mutations)

Neurology

10.014

CADASIL (sequence of exons 3, 4; most frequent mutations)

CASIL

Signs/symptoms:	Multiple strokes, dementia, familial (autosomal-dominant).
Complications:	Vascular pathology, cerebrovascular strokes.
Early diagnosis/treatment:	Yes

CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). Hereditary multi-infarct dementia in multiple members of families in a pattern consistent with autosomal dominant inheritance.

Material required:
Blood tubes:	EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush:	No

Chromosomal localization:

19p13.2-p13.1

OMIM number:

600276

NOTCH3 (sequence of exons 3, 4; most frequent mutations)

NOTCH3

Gene regions tested:
Gene regions:	exons 3, 4
Amino acid positions:
Nucleotide positions:
Test methods:	Sequencing

Prices:

Switzerland:

8820.00

8811.01

8819.01

	TP REVAL:	600	TP Value:	0.9	CHF	540.00
Other europe:	EUR					350.00
Other regions:	USD					call

References:

Sonninen, V.; Savontaus, M.-L. Hereditary multi-infarct dementia. Europ. Neurol. 27: 209-215, 1987.

Vinters HV. Cerebral amyloid angiopathy: a critical review. Stroke 18: 311-324, 1987.

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CADASIL (sequence of exons 3, 4; most frequent mutations)