Overgrowth and Macrocephaly Syndromes Panel
Use
This test is designed for individuals who exhibit features suggestive of overgrowth and macrocephaly syndromes, or have a clinical or suspected diagnosis. The aim is to provide a molecular diagnosis to better guide cancer surveillance programs for these patients. Early and precise genetic diagnosis can significantly impact patient management and help tailor individual therapeutic approaches.
Special Instructions
For optimal accuracy, the test may require genetic counseling to discuss implications of test results. It is suggested that healthcare providers ensure the collected specimens are properly labeled and meet the required standards for this test. This panel uses state-of-the-art sequencing technology with CNV analysis to maximize detection capabilities across a broad spectrum of overgrowth-related genes.
Limitations
While the panel covers 112 genes associated with overgrowth and macrocephaly syndromes, genetic variants outside the captured targets cannot be detected. Limitations include potential lack of coverage due to technical failings, rare or novel variants outside of current datasets, and artifacts that may complicate CNV detection. Interpretation relies on current science, which is ever-evolving, meaning novel links or mutations could be missed.
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