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). A patient history form is required before testing will be performed. Informed consent is required for testing in presymptomatic adults. Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787.
Massively Parallel Sequencing
New York DOH Approval Status
Lavender (EDTA) or Yellow (ACD Solution A or B).
Transport 5 mL whole blood. (Min: 3 mL)
Serum or plasma; grossly hemolyzed or frozen specimens
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
Gene Tested: NOTCH3 (NM_000435)
Exon 1 is not covered by sequencing.
|Component Test Code*||Component Chart Name||LOINC|
|3004384||CADASIL (NOTCH3) Specimen||66746-9|
|3004385||CADASIL (NOTCH3) Interp||41077-9|
- ischemic events
- subcortical infarcts
- transient ischemic attacks