Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Panel
Use
This test is intended for individuals with a clinical or suspected diagnosis of holoprosencephaly (HPE), those with a family history of HPE in first-degree relatives, and individuals with normal chromosomal microarray and karyotype results but with a clinical or suspected diagnosis of HPE. The panel is designed to detect genetic variants that may cause or contribute to HPE.
Special Instructions
The test requires the completion of a clinical features checklist or provision of clinical notes/records, including family medical history and pedigree if available, to aid in the accurate interpretation of results.
Limitations
The performance characteristics of these tests have been validated by PreventionGenetics following CAP and CLIA regulations, but they have not been cleared or approved by the FDA. The test is susceptible to all limitations typical of NGS, such as incomplete coverage of certain regions and inability to detect certain types of genetic changes like repeat expansions.
New York Approved
Methodology
NGS (CGP)
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