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Recommendations when to order or not order the test. May include related or preferred tests.
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.
New York DOH Approval Status
Indicates whether a test has been approved by the New York State Department of Health.
Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.
Specimen Required
Patient PreparationInstructions patient must follow before/during specimen collection.
CollectSpecimen type to collect. May include collection media, tubes, kits, etc.
Lavender or pink (EDTA) or yellow (ACD solution A or B). New York State Clients: Lavender (EDTA) or yellow (ACD solution)
Specimen PreparationInstructions for specimen prep before/after collection and prior to transport.
Transport 5 mL whole blood. (Min: 3 mL)
Storage/Transport TemperaturePreferred temperatures for storage prior to and during shipping to ARUP. See Stability for additional info.
Refrigerated.
Unacceptable ConditionsCommon conditions under which a specimen will be rejected.
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
RemarksAdditional specimen collection, transport, or test submission information.
StabilityAcceptable times/temperatures for specimens. Times include storage and transport time to ARUP.
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable New York State Clients: Ambient: 48 hours; Refrigerated: 1 week; Frozen: Unacceptable
Methodology
Process(es) used to perform the test.
Massively Parallel Sequencing
Performed
Days of the week the test is performed.
Varies
Reported
Expected turnaround time for a result, beginning when ARUP has received the specimen.
10-15 days
Reference Interval
Normal range/expected value(s) for a specific disease state. May also include abnormal ranges.
Refer to report
Interpretive Data
May include disease information, patient result explanation, recommendations, or details of testing.
Refer to report.
Compliance Category
Laboratory Developed Test (LDT)
Note
Additional information related to the test.
Gene Tested: NOTCH3 (NM_000435) Exon 1 is not covered by sequencing.
When testing cord blood specimens, the presence of maternal cell contamination (MCC) is possible, which may impact result interpretation. If clinically warranted, testing for MCC is available, at a charge, through ARUP Laboratories.
Hotline History
N/A
CPT Codes
The American Medical Association Current Procedural Terminology (CPT) codes published in ARUP's Laboratory Test Directory are provided for informational purposes only. The codes reflect our interpretation of CPT coding requirements based upon AMA guidelines published annually. CPT codes are provided only as guidance to assist clients with billing. ARUP strongly recommends that clients confirm CPT codes with their Medicare administrative contractor, as requirements may differ. CPT coding is the sole responsibility of the billing party. ARUP Laboratories assumes no responsibility for billing errors due to reliance on the CPT codes published.
* 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
Other names that describe the test. Synonyms.
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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