Suggested Custom Slice – Heterotaxy
Use
This is a customizable custom Slice test designed for patients with a defined, oligogenic phenotype—in this instance, heterotaxy—where comprehensive exome data is generated but analysis is restricted to a provider-defined gene list. It is suitable when no fixed panel exists for heterotaxy or for single-gene disorders without clinical testing availability.
Special Instructions
Not provided.
Limitations
Only variants within the user-specified gene list are analyzed and reported. Secondary findings outside the list (including ACMG secondary findings) are not identified unless included on the gene list. Analysis is limited to the requested genes despite full exome sequencing, which may miss clinically relevant or actionable variants.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
3-5 weeks
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Specimen requirements follow exome testing; standard sample types (e.g., blood, saliva, etc.) as per exome test requirements.