Xpanded® Congenital Heart Defects (CHD) Panel
Use
The Xpanded® CHD Panel is a comprehensive phenotype‑driven next‑generation test that targets over 350 genes known to be associated with isolated and syndromic congenital heart defects, curated from OMIM, HGMD, Human Phenotype Ontology terms, and GeneDx’s internal exome data, and is regularly updated to reflect current evidence. It captures and sequences whole exome data but analyzes only the CHD‑relevant gene list to identify pathogenic or likely pathogenic variants linked to the patient's phenotype.
Special Instructions
When submitted, specimens from the proband and, where available, parents and/or additional relatives may be included to aid interpretation; a single report is issued for the affected proband. Separate reports for unaffected relatives require additional fees. Additional files listing all observed variants (including VUS) can be requested separately upon completion of testing.
Limitations
Because analysis is limited to phenotype‑driven CHD‑associated genes despite exome sequencing, variants of uncertain significance and variants not on the curated list may be missed; benign and likely benign variants are not reported routinely. The report includes only pathogenic or likely pathogenic variants; full variant lists must be specifically requested.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
0 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided