Invitae Ciliopathies Panel
Use
The Invitae Ciliopathies Panel is used to analyze genes associated with ciliopathy syndromes. This class of disorders shares various symptoms such as renal disease, eye defects, intellectual disability, and skeletal dysplasias. The panel helps confirm diagnoses and aids in treatment and management decisions. Identification of pathogenic variants in these genes can inform recurrence risk assessment and genetic counseling.
Special Instructions
The test allows customization by removing genes. It achieves >99% analytical sensitivity and specificity for certain variants. Limitations for specific genes and variants will be listed on the report.
Limitations
This test may not detect all structural rearrangements or variants within complex sequences. Single-exon copy number events may be missed occasionally. Variants in particular non-coding regions are not covered. Accurate representation of the constitutional genome may not be feasible in cases of recent blood transfusion or marrow transplant.
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)