Invitae van der Woude Syndrome Panel
Use
The Invitae van der Woude Syndrome Panel analyzes two genes, GRHL3 and IRF6, associated with Van der Woude syndrome (VDWS). This congenital disorder is characterized by cleft lip, cleft palate, and bilateral paramedian lower lip pits. Genetic testing of these genes may confirm a diagnosis, aid in medical management, and inform genetic counseling for recurrence-risk assessment. Identification of a pathogenic variant can contribute to understanding associated features such as hypodontia, ankyloglossia, limb abnormalities, hearing loss, and congenital heart defects.
Special Instructions
This test is CAP-accredited, CLIA-certified, and New York approved. The analysis covers coding exons, adjacent intronic sequences, and select non-coding variants. Variants outside these regions are not analyzed. Certain conditions, such as blood transfusion history, may affect results.
Limitations
The assay achieves >99% sensitivity and specificity for SNVs, insertions, and deletions <15bp and exon-level deletions. Sensitivity for larger insertions/deletions may be reduced. Some events, like structural rearrangements or variants in complex regions, may not be detected. Single-exon copy number events might be missed due to sequence properties. Mosaicism, phasing, or mapping ambiguity might not be resolvable. Promoter and certain non-coding regions are not covered unless specified.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
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)