Cerebral Cavernous Malformation Panel, Sequencing and Deletion/Duplication
Also known as: CCM NGS
Use
This test is used to confirm a diagnosis of familial cerebral cavernous malformation (FCCM) in individuals with suggestive findings. FCCM is defined by the presence of multiple CCMs, a single CCM and at least one family member with one or more CCM, or a pathogenic heterozygous variant in one of the associated genes (CCM2, KRIT1, or PDCD10). The test analyzes these genes to identify disease-associated variants.
Special Instructions
Not provided.
Limitations
A negative result does not exclude a diagnosis of FCCM as this test only detects variants within the coding regions and intron-exon boundaries of the targeted genes. Deletions/duplications/insertions of any size may not be detected by massively parallel sequencing. Precise breakpoints for large deletions or duplications are not determined in this assay, and single exon deletions/duplications may not be detected based on the breakpoints of the rearrangement. Not intended to detect low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA (mtDNA) mutations, or repeat expansions.
Methodology
NGS (Targeted)
Biomarkers
CCM2, KRIT1, PDCD10
Gene
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
3 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant