Invitae Ellis-van Creveld and Weyers Acrofacial Dysostosis Panel
Use
The Invitae Ellis-van Creveld and Weyers Acrofacial Dysostosis Panel analyzes two genes associated with Ellis-van Creveld syndrome (EvC) and Weyers acrofacial dysostosis (WAD). These disorders are characterized by variable developmental defects in the skeletal system, ectoderm, and cardiovascular system. Genetic testing may confirm a diagnosis and guide treatment decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.
Special Instructions
Not provided.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, deletions <15bp, and exon-level deletions/duplications. Sensitivity for larger insertions/deletions may be marginally reduced. Structural rearrangements and variants in non-clinically validated regions may not be detected. Mosaicism, phasing, or mapping ambiguity may not be fully resolved.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
EVC, EVC2
Gene
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant