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KRIT1 (CCM1) Sequencing and CNV Evaluation
Test Code10133
CPT Codes
81479<br>Restricted Client Code
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
Pediatric (0-3 years): 2 mL
Pediatric (0-3 years): 2 mL
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
This test requires physician attestation that patient consent has been received.
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. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
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. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing • Copy Number Variation Analyses using Next Generation Sequencing • Targeted Microarray or MLPA with Copy Number Variation confirmation
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: Varies; Report available: 28-35 days
Reference Range
See Laboratory Report
Clinical Significance
Detects sequence variants and copy number variations (CNV) in the KRIT1 (CCM1) gene in patients with cerebrovascular malformations associated with cerebral hemorrhage, seizures, headaches, and focal neurological deficits.
