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Test Code 11525

CADASIL1 via the NOTCH3 Gene

NOTCH3

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of CADASIL
  • Individuals with white matter abnormalities on brain MRI suggestive of CADASIL, such as subcortical infarcts
  • Individuals with characteristic granular osmiophilic material observed or immunostaining showing a positive granular NOTCH3 staining of the vessel wall via skin biopsy
Method
NGS with CNV (Exome or Genome Platform)
Specimen(s)

Exome Platform: Blood, DNA, Buccal, Saliva, Tissue

Genome Platform: Blood, DNA

Order Options

Platform
Test type
OTHER OPTIONS
for pricing.

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