Invitae Cerebral Cavernous Malformations Panel
Use
The Invitae Cerebral Cavernous Malformations Panel analyzes three genes associated with hereditary vascular cavernous malformations in the brain. Testing may confirm a diagnosis and inform treatment and management decisions. Identification of a disease-causing variant guides testing and diagnosis of at-risk relatives.
Special Instructions
Not provided.
Limitations
While this assay covers clinically important regions, certain variants such as structural rearrangements may not be detected. Single-exon copy number events may not be analyzed due to sequence properties. Promoter and certain non-coding regions are not intentionally analyzed unless specified.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
CCM2, KRIT1, PDCD10
Gene
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant