Invitae Facial Dysostosis and Frontonasal Dysplasia Panel
Use
The Invitae Facial Dysostosis and Frontonasal Dysplasia Panel analyzes genes associated with facial dysostosis and related disorders, which are genetically heterogeneous and characterized primarily by craniofacial anomalies. The panel provides an efficient evaluation of several potential genes for a single clinical indication, considering the challenge of using phenotype as the sole criterion to determine a definitive cause. Some genes may be associated with additional disorders not covered by this panel.
Special Instructions
The test can be customized by removing specific genes from the panel. Specimen requirements include whole blood, saliva, buccal swab, and genomic DNA. It is important to ensure proper sample collection and handling.
Limitations
The test analyzes clinically important regions of each gene, including coding exons and adjacent intronic sequences. Variants outside these regions or certain structural rearrangements may not be detected. The assay may not cover promoter regions, non-coding exons, or other non-coding regions. Single-exon copy number events might not be fully analyzed in rare situations. Details about regions or types of variants covered or excluded should be consulted on the website.
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)