Invitae Ehlers-Danlos Syndrome Panel
Use
This test analyzes genes associated with Ehlers-Danlos syndrome (EDS) and other multi-system disorders that may present with features similar to EDS. Ehlers-Danlos syndrome is a group of related conditions affecting the connective tissues that support the bones, blood vessels, skin, and other organs. Symptoms can vary, even among family members, and may include joint hypermobility, stretchy skin, and easy bruising. This test is clinically significant as it enables a more efficient evaluation of multiple potentially relevant genes based on a single indication. The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp, and exon-level deletions and duplications. It is intended for individuals with a clinical diagnosis of EDS, early-onset connective tissue disease, or features of EDS and other related conditions.
Special Instructions
Not provided.
Limitations
Sequence analysis covers clinically important regions of each gene, including coding exons and adjacent intronic sequences; however, some limitations exist, such as the inability to detect structural rearrangements, or variants embedded in complex sequences. Single-exon copy number events may not be analyzed due to sequence properties or data quality. Non-coding exon and sequence changes in non-coding regions are not covered. The test may not fully resolve details about variants like mosaicism, phasing, or mapping ambiguity.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Plasma
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant