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Test Code 10079

Ellis-van Creveld Syndrome (EVC) Panel

2 genes

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of Ellis-van Creveld syndrome
  • Individuals of Amish ancestry from Lancaster County, Pennsylvania
  • Family members of individuals with a diagnosis of Ellis-van Creveld syndrome.
  • Reproductive partners of individuals with a known pathogenic variant in EVC or EVC2 genes
Method
NGS with CNV (Exome or Genome Platform)
Specimen(s)

Exome Platform: Blood, DNA, Buccal, Saliva, Tissue

Genome Platform: Blood, DNA

Order Options

Platform
Test type
OTHER OPTIONS
for pricing.

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