Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL (NOTCH3), Sequencing
Preferred test for genetic confirmation of a clinical diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Polymerase Chain Reaction/Sequencing
Within 14 days
Lavender (EDTA), Pink (K2EDTA), or Yellow (ACD)
Transport 3 mL whole blood. (Min: 1 mL)
Serum and Plasma
Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months
Background Information for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL (NOTCH3), Sequencing:
Characteristics: Subcortical ischemic events, including transient ischemic attacks (TIAs) and strokes, are the most common presentation of CADASIL and present in approximately 85 percent of affected individuals. Cognitive defects and dementia are observed in 75 percent of affected individuals, migraines in 35 percent, psychiatric and mood disorders in 33 percent, and epilepsy in 10 percent. Age of onset and clinical presentation are highly variable.
Prevalence: 2-4 in 100,000.
Inheritance: Autosomal dominant.
Cause: Pathogenic variants in the NOTCH3 gene.
Clinical Sensitivity: 95 percent.
Methodology: Bidirectional sequencing of NOTCH3 coding regions and intron/exon boundaries.
Analytical Sensitivity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region variants and large deletion/duplications in the NOTCH3 gene will not be detected.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|3000532||NOTCH3 FGS Specimen||31208-2|
|3000533||NOTCH3 FGS Interpretation||41077-9|