Ellis-van Creveld Syndrome (EVC) Panel
Use
This test is intended for individuals with features indicative of Ellis-van Creveld syndrome, a rare genetic disorder characterized by short stature, polydactyly, heart defects, and other features. It is particularly relevant for individuals of Amish ancestry from Lancaster County, Pennsylvania, and family members of individuals diagnosed with the syndrome. The test may help in confirming a clinical diagnosis, guiding management, and informing reproductive decisions for family members and reproductive partners who may carry pathogenic variants in the EVC or EVC2 genes.
Special Instructions
The test uses NGS with CNV on either an Exome or Genome Platform. Physicians can order the test through the online platform or by fax using the test requisition form. Additional testing options, such as exome-wide CNV analysis or targeted family testing, are available based on the report outcomes.
Limitations
Genetic tests may not detect all types of mutations in the EVC and EVC2 genes and may not identify rare, novel variants outside standard coverage or pipeline design. CNV detection is platform-dependent and may have limitations in resolution. False negatives or positives may occur due to technical errors, sample quality, or variant interpretation limitations.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
7-16 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided