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: PDCD10
Sanger Sequencing
$550
Test Code: 1499
Deletion / Duplication
$680
Test Code: 1500
Sanger/Del Dup Comprehensive
$1,130
Test Code: 1501

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

Test Details

Technical Information
Genes: 
PDCD10
Disease Groups: 
Vascular Malformations
MIM: 
603285
Billing
Price: 
$550
CPT Codes: 
81479 x 1
Ordering
SKU:
1499
Turnaround Time: 
Typically 1 to 2 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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