Suggested Custom Slice – Glycogen Storage Disorders
Use
This Custom Slice test for Glycogen Storage Disorders enables providers to define a focused gene list tailored to a suspected glycogen storage disease phenotype. It is especially valuable when a standard panel is not suitable or available, and when the clinical scenario suggests an oligogenic or single-gene etiology. It leverages exome sequencing but restricts analysis to the genes specified by the provider, reducing the likelihood of incidental findings not relevant to the clinical query.
Special Instructions
Ordering requires submission of a custom gene list via the GeneDx online Slice Tool. A unique tracking number is generated upon approval and must accompany the sample. Gene list approval generally occurs within three business days. Exome capture is performed for the entire exome, but analysis and reporting are confined strictly to the approved gene list. ACMG secondary findings are not reported unless those genes are on the custom list.
Limitations
Only the genes included in the approved custom list are analyzed and reported; secondary findings outside that list will not be assessed or disclosed. The selection of genes is the responsibility of the ordering provider; GeneDx does not validate the clinical selection. The analytic sensitivity is limited to the captured and sequenced regions of the listed genes, excluding broader exome data. Interpretation depends on the completeness and accuracy of provider-provided gene lists, and coverage metrics are provided post-approval.
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