Notch3 (CADASIL) DNA Sequencing Test

Test Code
421

The recommended alternative is NOTCH3 (CADASIL) Sequencing Test.

Test Details


Test code: 421
Type of disorder: Cerebrovascular Disease
Disease(s) tested for: CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)
Genes Included: NOTCH3
Informed Consent Required: This test requires physician attestation that patient consent has been received

Technical Information


Clinical Significance: Detects sequence variants in the Notch3 gene

Typical Presentation: Hereditary cause of stroke, dementia, migraine with aura, mood disorders

Indications for testing: Clinical features consistent with CADASIL
Methodology: Next Generation Sequencing
Reference Range: No sequence variants detected

CPT Coding


The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

CPT: 81406(1)

Specimen Requirements


Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

Specimen Type: Whole blood
Specimen Stability: Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable
Specimen Requirements: 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum)
Instructions: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood

Shipping Considerations


Transport Temperature: Room temperature
Set-up/Analytic Time: 21-28 days

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