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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL (NOTCH3), Sequencing
3004383
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Ordering Recommendation
Preferred test for genetic confirmation of a clinical diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
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 (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
Remarks
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report.
Compliance Category
Note
Gene Tested: NOTCH3 (NM_000435)
Exon 1 is not covered by sequencing.
Hotline History
Hotline History
Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
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
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