Cornelia de Lange Syndrome and Related Disorders Panel
Use
The Cornelia de Lange Syndrome and Related Disorders Panel is designed for individuals who present with features indicative of Cornelia de Lange syndrome or have symptoms consistent with other related disorders such as Coffin-Siris syndrome, Bohring-Opitz syndrome, and KBG syndrome. This genetic test can aid in confirming a clinical or suspected diagnosis by identifying pathogenic variants within the 42 genes associated with these conditions.
Special Instructions
Testing is available on both Exome and Genome platforms enabling broad genomic analysis. This panel is New York approved, ensuring compliance with one of the most stringent state regulatory requirements for genetic testing. Orders can include standard or STAT processing depending on the urgency of results. Additional services such as targeted family testing can be pursued post initial testing.
Limitations
While the panel covers 42 genes associated with Cornelia de Lange syndrome and similar disorders, it does not encompass all possible genetic causes for such syndromes. Variants outside the captured gene list or those without known clinical significance may not be detected. Phenotypic variability and incomplete penetrance can also affect the interpretation of test results, and supplementary investigations might be needed to confirm findings.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
7-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided