Invitae Ehlers-Danlos Syndrome Panel

Casandra

Casandra Test Code IN02313Version 1 (DRAFT)

Performing Lab

Lab Invitae CorporationLab Test ID 02313

Invitae Ehlers-Danlos Syndrome Panel

Clinical Use

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

The test includes full-gene sequencing and deletion/duplication analysis. Invitae offers specimen collection kits, and saliva, buccal swab, and gDNA are also accepted as alternate specimens. The test cannot be combined with other Cardiology panels either at initial order or re-requisition.

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.

Test Details

New York Approved