Invitae Craniosynostosis Panel
Use
The Invitae Craniosynostosis Panel analyzes genes associated with syndromic and nonsyndromic craniosynostosis. These conditions are characterized by the premature fusion of one or more sutures in the skull, which can lead to abnormal head shape and variable clinical severity. This genetic test provides a broad analysis of relevant genes to aid in diagnosis and guide treatment decisions. It also provides information to support recurrence-risk assessment and genetic counseling. Identification of disease-causing variants can inform treatment and management decisions.
Special Instructions
Genes may be associated with additional disorders unrelated to this panel, which are not included in the list of disorders tested. The panel allows customization by removing genes and involves full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology.
Limitations
This panel may not detect all structural rearrangements or certain types of sequence variants, such as those in promoter regions or complex regions like short tandem repeats. Analytical sensitivity for larger indels may be reduced, and single-exon events might be challenging due to inherent sequence properties. There is a marginally reduced sensitivity for insertions and deletions larger than 15bp but smaller than a full exon.
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
Not provided
Minimum Volume
3mL
Container
purple-top EDTA tube (K2EDTA or K3EDTA)