Number of Panel Genes: 
17

Vascular anomalies are congenital defects of the vasculature and they encompass a variety of disorders.
Connective Tissue Gene Tests vascular malformation panel consists of genes for capillary malformation- arteriovenous malformation and Parkes Weber syndrome, cerebral cavernous malformations, Cowden syndrome, hereditary hemorrhagic telangiectasia, pulmonary hypertension and venous malformations (glomuvenous malformations and cutaneomucosal venous malformations).

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Tests Available

17 Panel Genes: ACVRL1, BMPR2, CAV1, CCM2, EIF2AK4, ENG, FOXF1, GDF2, GLMN, KCNK3, KRIT1, PDCD10, PTEN, RASA1, SMAD4, SMAD9, TEK
Next Generation Sequencing
$1,590
Test Code: 5178
Deletion / Duplication
$1,150
Test Code: 5179
NGS/Del Dup Comprehensive
$2,590
Test Code: 5180

Test Details

Technical Information
Panel Genes: 
ACVRL1, BMPR2, CAV1, CCM2, EIF2AK4, ENG, FOXF1, GDF2, GLMN, KCNK3, KRIT1, PDCD10, PTEN, RASA1, SMAD4, SMAD9, TEK
Disease Groups: 
Vascular Malformations
Billing
Price: 
$1,590
CPT Codes: 
81406 x 3
81479 x 13
81321 x 1
Ordering
SKU:
5178
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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