Suggested Custom Slice — Hyperinsulinism (GeneDx Test #81695)
Use
This custom 'Slice' test allows providers to specify 2–150 genes of interest related to hyperinsulinism for targeted sequencing, facilitating a focused and efficient diagnostic work‑up in patients suspected of monogenic hyperinsulinism or related endocrine dysregulation.
Special Instructions
Providers must supply clinical documentation, including relevant gene/disorder differential diagnosis and specimen(s) from the patient (and, if applicable, family members) when ordering this custom slice test. Clinical notes should be recent (within two weeks of sample receipt) and justify why exome/genome testing is not used and how the results may impact management.
Limitations
As a targeted custom gene panel, this test relies on the genes specified by the ordering provider. Variants outside the selected genes will not be assessed. Coverage limitations and inability to detect mosaicism or structural variants may apply based on assay design.
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