Hypoglycemia Panel
Use
This test is intended for individuals presenting with ketotic or non-ketotic hypoglycemia without a known cause, and those with congenital hyperinsulinism without a known cause. The panel analyzes 171 genes to help identify potential genetic causes of hypoglycemia and hyperinsulinism, which can inform diagnosis, guide treatment decisions, and assist in genetic counseling.
Special Instructions
The test can be ordered with Exome-Wide CNV Analysis as an additional option. STAT testing is available, adding a 25% surcharge, which will not apply if the report is delivered after 16 days and the blood sample was submitted. A completed online order or paper test requisition form along with a labeled specimen is required to initiate testing.
Limitations
The test is limited by its reliance on NGS with CNV analysis, as rare variants might not be detected. Although comprehensive, the panel may not identify all potential genetic causes of hypoglycemia and congenital hyperinsulinism. Results must be interpreted in the context of clinical findings and family history. The test has not been FDA cleared or approved.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
For the Exome Platform, specimens can include blood, DNA, buccal, saliva, or tissue. For the Genome Platform, blood and DNA are accepted. Ensure proper labeling and preservation.