The cerebral cavernous malformations, CCM1 (MIM 116860), CCM2 (MIM 603284), and CCM3 (MIM 603285), are autosomal dominant disorders caused by mutations in the KRIT1, CCM2, and PDCD10 genes, respectively. Cerebral cavernous malformations are loosely organized vascular channels that are devoid of intervening nervous tissue.read more
Tests Available
By gene: CCM2
Next Generation Sequencing
$900
Test Code: 1496
|
Deletion / Duplication
$900
Test Code: 1497
|
NGS/Del Dup Comprehensive
$1,100
Test Code: 1498
|
Related Panels
Test Details
Technical Information
Genes:
CCM2
Disease Groups:
Vascular Malformations
MIM:
603284
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1496 Turnaround Time:
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.