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CADASIL (sequence of exons 3, 4, 5, 6, 7, 8, 11)

Neurology 10.016

CADASIL (sequence of exons 3, 4, 5, 6, 7, 8, 11)

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, 5, 6, 7, 8, 11)

NOTCH3

Gene regions tested:

Gene regions: exons 3, 4, 5, 6, 7, 8, 11
Amino acid positions:
Nucleotide positions:
Test methods: Sequencing

Prices:

Switzerland:

8820.00 8811.01 8819.01
  TP REVAL: 1200 TP Value: 0.9 CHF 1080.00
Other europe: EUR 750.00
Other regions: USD call

References:

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

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