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

NOTCH3 NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).

Specimen Preparation

Transport 5 mL whole blood. (Min: 3 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.   

Compliance Category

Laboratory Developed Test (LDT)

Note

Gene Tested: NOTCH3 (NM_000435)
Exon 1 is not covered by sequencing.

Hotline History

N/A

CPT Codes

81406

Components

Component Test Code* Component Chart Name LOINC
3004384 CADASIL (NOTCH3) Specimen 66746-9
3004385 CADASIL (NOTCH3) Interp 41077-9
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • arteriopathy
  • CADASIL
  • ischemic events
  • leukoencephalopathy
  • stroke
  • subcortical infarcts
  • TIA
  • transient ischemic attacks
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL (NOTCH3), Sequencing