Custom XomeDx Slice – Differences of Sex Development (Proband Only)
Use
This test is used to help diagnose differences of sex development by analyzing a custom selected gene list—limited to the genes specified by the ordering provider—leveraging exome data targeted to that list. It is designed for patients with clearly defined, oligogenic phenotypes where standard diagnostic panels may not exist.
Special Instructions
The test requires submission of a custom gene list via GeneDx’s online Slice Tool (“Custom Slice requisition form”) and approval by GeneDx clinical staff, with average percent coverage reported at ≥10X. A unique tracking number must accompany the sample submission.
Limitations
ACMG secondary findings from comprehensive exome sequencing are not returned unless the gene(s) are included on the custom list; analysis is restricted to requested genes only. Exome data are generated but only the specified gene list is analyzed and reported.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Extracted DNA
Volume
Not provided
Minimum Volume
Not provided
