Suggested Custom Slice – Short Rib Thoracic Dysplasia

Casandra

Casandra Test Code GE44055Version 1 (DRAFT)

Performing Lab

Lab GeneDxLab Test ID N/A

Suggested Custom Slice – Short Rib Thoracic Dysplasia

Clinical Use

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

Providers must submit a gene list using the GeneDx online Slice Tool. GeneDx reviews the list (typically within 3 business days) and returns an approval email containing coverage metrics and a tracking number; this tracking number must accompany the specimen. GeneDx offers guidance on gene selection, but final responsibility remains with the provider.

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.

Test Details