Loeys-Dietz Syndrome Panel
Use
The Loeys-Dietz Syndrome Panel is designed for individuals with features suggestive of Loeys-Dietz syndrome or those with a family member with a presumed or genetically confirmed diagnosis. This test aids in determining the genetic etiology of the disorder, facilitating diagnostic confirmation and informing management and genetic counseling.
Special Instructions
STAT testing is available, and a surcharge applies if the turnaround time exceeds 16 days. Additional testing options and targeted family testing are available post-analysis. Tests must be ordered by a qualified healthcare provider using either online submission or a paper requisition form with proper specimen labeling.
Limitations
The clinical validity of the Loeys-Dietz Syndrome Panel is dependent on the clinical features and family history provided. Variants of unknown significance may be identified, requiring further analysis or familial testing for interpretation. This test has not been cleared by the FDA; results should be considered in the clinical context.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided