Beckwith-Wiedemann Syndrome via the CDKN1C Gene
Use
This test is for individuals with relevant features who have a clinical or suspected diagnosis of Beckwith-Wiedemann syndrome. It is also applicable for those individuals with normal methylation testing results at chromosome 11p15 and those without access to the specific CDKN1C variant information for a family member who has genetically-confirmed Beckwith-Wiedemann syndrome due to a CDKN1C variant.
Special Instructions
Not provided.
Limitations
This test has been developed and validated by PreventionGenetics LLC following CAP and CLIA regulations. Note that these tests have not been cleared or approved by the US Food and Drug Administration. The test covers sequencing and CNV detection via the CDKN1C gene, and unavailability due to sample type or test method (e.g., not available for PG-Select panels, Sanger sequencing) may apply.
Methodology
NGS (Targeted)
Biomarkers
CDKN1C
Gene
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