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: KRIT1
Next Generation Sequencing
$990
Test Code: 1493
Deletion / Duplication
$680
Test Code: 1494
NGS/Del Dup Comprehensive
$1,570
Test Code: 1495

Related Panels
Cerebral cavernous malformations NGS panel (3 genes)
NGS $1,100
Del Dup $800
Comp $1,800

Test Details

Technical Information
Genes: 
KRIT1
Disease Groups: 
Vascular Malformations
MIM: 
116860
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1493
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.

Search Tests

TIP: enter a partial disorder name or gene to widen your search