Suggested Custom Slice – VACTERL Association
Use
This Custom Slice test is designed for individuals suspected of having VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities). It enables targeted genomic analysis by sequencing the exome and restricting analysis to a provider-specified gene list relevant to VACTERL phenotypes. This approach can help detect variants across relevant genes when standard gene panels are not available or insufficient.
Special Instructions
Not provided.
Limitations
The test analyzes only the genes specified by the provider; variants in other genes—even if medically significant—will not be identified. Secondary findings per ACMG guidelines (e.g., in XomeDx® or XomeDx® Plus) are excluded unless included in the submitted gene list. The test is performed on the proband only; family member inclusion depends on available options and may incur additional fees.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided