Suggested Custom Slice – Short Rib Thoracic Dysplasia
Use
This GeneDx Custom Slice test uses exome sequencing with analysis limited to a custom gene list tailored by the provider via the online Slice Tool. It is appropriate for individuals with suspected short‑rib thoracic dysplasia where comprehensive panels are unavailable. The ordering provider submits a customized gene list, which is reviewed by clinical staff; only genes on this list are analyzed and reported. This phenotype‑driven reporting enables focused diagnosis while minimizing incidental or secondary findings.
Special Instructions
Not provided.
Limitations
Only genes on the approved custom list are analyzed and reported; secondary ACMG findings are not included unless they are explicitly on the gene list. Exome data is generated, but off‑list variants are not assessed or reported. Family member samples are not inherently included unless stipulated under Slice Xpanded®; this specific custom slice is proband‑only. Interpretation depends on phenotype and submitted genes; lack of findings may reflect limitations of the gene list rather than absence of pathology.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Other tests from different labs that may be relevant