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NOTCH3 (CADASIL) Sequencing Test
MessageOrder as a miscellaneous test.
Test Code
1175
Alias/See Also
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
CPT Codes
81406
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
Minimum Volume
6 mL
Instructions
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing
FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: As needed; Report available: 28-35 days
Reference Range
See Laboratory Report
Clinical Significance
Detects sequence variants in the NOTCH3 gene in patients with CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy).
Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752
Last Updated: December 9, 2022
