Invitae Connective Tissue Disorders Panel
Use
The Invitae Connective Tissue Disorders Panel is designed to analyze genes associated with inherited conditions affecting connective tissue. These disorders are often multi-systemic and may involve the bones, joints, blood vessels, skin, eyes, and other organs. Given the genetic heterogeneity of these disorders, broad panel testing provides an efficient approach for evaluating several potential causative genes based on a single clinical indication. This panel includes genes with preliminary evidence of a clinical association to provide a comprehensive evaluation.
Special Instructions
This panel includes genes currently considered to have early evidence of a clinical association with connective tissue disorders. Some clinicians may opt to include genes without definitive clinical associations at present, but which may become significant in the future. The test can be customized by removing specific genes if desired.
Limitations
The test achieves over 99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions less than 15bp, as well as exon-level deletions and duplications. It may detect larger insertions and deletions (up to a single exon), but sensitivity may be lower. Certain variant types, such as structural rearrangements, may not be detected. Variants in promoters, non-coding exons, and other non-coding regions are typically not covered unless specified.
New York Approved
Methodology
NGS
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)