Invitae Cornelia de Lange Syndrome and Related Disorders Panel
Use
The Invitae Cornelia de Lange Syndrome and Related Disorders Panel analyzes genes associated with Cornelia de Lange syndrome (CdLS) and related conditions. These genes are selected based on available evidence to provide a broad analysis for inherited multiple congenital malformation disorders. The panel testing allows for efficient evaluation, confirming a diagnosis, guiding treatment, and assessing recurrence risk and genetic counseling.
Special Instructions
Preferred specimen is 3mL whole blood in a purple-top EDTA tube. Saliva, buccal swab, and gDNA are also accepted. Turnaround time averages 14 calendar days. Contact client services for questions. Sequence analysis covers clinically important regions, including select non-coding variants.
Limitations
This assay may not detect structural rearrangements, variants in non-coding regions unless explicitly guaranteed, and certain types of single-exon copy number events. Resolution of details like mosaicism or mapping ambiguity may not be possible. In rare cases, samples from individuals with hematolymphoid neoplasm, bone marrow transplant, or recent transfusion may not represent the constitutional genome.
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)