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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL (NOTCH3), Sequencing
3000531
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.
ARUP Consult®
Disease Topics
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 Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
Hotline History
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Components
Component Test Code*Component Chart NameLOINC
3000532NOTCH3 FGS Specimen31208-2
3000533NOTCH3 FGS Interpretation41077-9
* 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