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NOTCH3 (CADASIL) Sequencing Test
Test Code1175
CPT Codes
81406
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
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Received frozen
Methodology
Next Generation Sequencing
Setup Schedule
Set up: As needed; Report available 28-35 days
Clinical Significance
Detects sequence variants in the NOTCH3 gene in patients with CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy).
