Number of Panel Genes: 
3

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

3 Panel Genes: KRIT1, CCM2, PDCD10
Next Generation Sequencing
$1,100
Test Code: 1502
Deletion / Duplication
$800
Test Code: 1503
NGS/Del Dup Comprehensive
$1,800
Test Code: 1504

Test Details

Technical Information
Panel Genes: 
KRIT1, CCM2, PDCD10
Disease Groups: 
Vascular Malformations
MIM: 
116860
603284
603285
Billing
Price: 
$1,100
CPT Codes: 
81479 x 3
Ordering
SKU:
1502
Turnaround Time: 
Typically 3 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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