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
$1,100
Test Code: 1140
|
Deletion / Duplication
$990
Test Code: 1141
|
NGS/Del Dup Comprehensive
$1,300
Test Code: 1539
|
Test Details
Technical Information
Panel Genes:
EVC, EVC2
Disease Groups:
Skeletal Ciliopathies
MIM:
225500
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1140 Turnaround Time:
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.