Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL (NOTCH3), Sequencing
Ordering Recommendation
Preferred test for genetic confirmation of a clinical diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 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 ext. 2141.
Mnemonic
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
14-21 days
New York DOH Approval Status
Specimen Required
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Transport 5 mL whole blood. (Min: 3 mL)
Refrigerated.
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report.
Laboratory Developed Test (LDT)
Note
Gene Tested: NOTCH3 (NM_000435)
Exon 1 is not covered by sequencing.
Hotline History
Hotline History
CPT Codes
81406
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
3004384 | CADASIL (NOTCH3) Specimen | 66746-9 |
3004385 | CADASIL (NOTCH3) Interp | 41077-9 |
Aliases
- arteriopathy
- CADASIL
- ischemic events
- leukoencephalopathy
- stroke
- subcortical infarcts
- TIA
- transient ischemic attacks