| Test code: | 1122 |
| Type of disorder: | Cerebrovascular Disease |
| Disease(s) tested for: | Cerebral Cavernous Malformations |
| Genes Included: |
CCM2, KRIT1, PDCD10, |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects sequence variants and copy number variations (CNV) in the KRIT1, CCM2, and PDCD10 genes in patients with cerebrovascular malformations associated with cerebral hemorrhage, seizures, headaches, and focal neurological deficits. |
| Methodology: |
Next Generation Sequencing
, Copy Number Variation Analyses using Next Generation Sequencing
, Targeted Microarray or MLPA with Copy Number Variation confirmation
|
| Reference Range: | See Laboratory Report |
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.
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. |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 28-35 days |
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