Invitae Loeys-Dietz Syndrome Panel
Use
This test is designed for individuals with a clinical diagnosis or features of Loeys-Dietz syndrome (LDS), a connective tissue disorder with vascular involvement. Identifying genetic variants associated with LDS can confirm the diagnosis, help clarify risks, and guide management, especially as individuals with LDS may be at risk for aortic dissections at smaller dimensions and in other arteries.
Special Instructions
This panel includes genes associated with LDS and conditions with similar clinical features. The test is performed using next-generation sequencing technology, with full-gene sequencing and deletion/duplication analysis covering clinically important gene regions.
Limitations
Analytical sensitivity is >99% for single nucleotide variants, insertions, and deletions <15bp, and exon-level deletions and duplications. Sensitivity for larger indels may be marginally reduced. Certain structural rearrangements and variants in complex sequence architectures may not be detected. Non-coding sequence changes are not covered unless specifically included in the panel.
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)