Number of Panel Genes: 
2

Ellis-van Creveld syndrome (EVC; MIM 225500) and Weyers acrofacial dysostosis (MIM 193530) are allelic disorders that share some clinical findings but differ in severity and pattern of inheritance. Ellis-van Creveld syndrome is an autosomal recessive disorder and is the more severe of the two.read more

Tests Available

2 Panel Genes: EVC, EVC2
Next Generation Sequencing
$1,000
Test Code: 1140
Deletion / Duplication
$750
Test Code: 1141
NGS/Del Dup Comprehensive
$1,650
Test Code: 1539

Test Details

Technical Information
Panel Genes: 
EVC, EVC2
Disease Groups: 
Skeletal Ciliopathies
MIM: 
225500
Billing
Price: 
$1,000
CPT Codes: 
81479 x 2
Ordering
SKU:
1140
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.

Related Panels
Skeletal dysplasia ciliopathy NGS panel (15 genes)
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Del Dup $1,150
Comp $2,900

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