Ordering Recommendation

Preferred test for genetic confirmation of a clinical diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Mnemonic
NOTCH3 FGS
Methodology

Polymerase Chain Reaction/Sequencing

Performed

Sun-Sat

Reported

Within 14 days

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), Pink (K2EDTA), or Yellow (ACD)

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated

Unacceptable Conditions

Serum and Plasma

Remarks
Stability

Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months

Reference Interval
Interpretive Data

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.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81406

Components
Component Test Code* Component Chart Name LOINC
3000532 NOTCH3 FGS Specimen 31208-2
3000533 NOTCH3 FGS Interpretation 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
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL (NOTCH3), Sequencing