Familial Hyperinsulinism
Use
The familial hyperinsulinism (FH) test offers molecular detection of two common pathogenic variants in the ABCC8 gene, IVS32‑9G>A (c.3989‑9G>A) and F1387del (c.4160_4162delTCT), which account for approximately 90% of Ashkenazi‑Jewish FH pathogenic variants. FH is an autosomal recessive disorder characterized by an inability to suppress insulin production that results in hypoglycemia (low blood sugar).
Special Instructions
Physician attestation of informed consent is required if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT, or if the test is performed in MA.
Limitations
Not provided.
Methodology
Other
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
4 mL
Container
EDTA (lavender‑top) or ACD (yellow‑top) tube
Other tests from different labs that may be relevant