Familial Hyperinsulinism (FHI)

Test Details

Use

Detect familial hyperinsulinism (FHI)

Special Instructions

If cultured cells are needed, an additional 7-12 days may be required. Additional culture fee may be included.

Methodology

DNA analysis

Additional Information

Familial hyperinsulinism (FHI) occurs at increased frequency in individuals of Ashkenazi Jewish descent, with a carrier frequency of 1 in 66. FHI causes hypoglycemia ranging from mild to severe. Onset ranges from the newborn period to the first years of life. If left untreated, FHI may be lethal or result in irreversible neurological damage. Couples who are planning a pregnancy or who are already pregnant may decide to have testing to find out whether they are carriers and at risk of having a baby with FHI. FHI mutation analysis tests for two mutations for an 88% carrier detection rate in the Ashkenazi Jewish population.

Specimen Requirements

Information on collection, storage, and volume

Specimen

Whole blood, amniotic fluid, chorionic villus sample (CVS) (Submission of maternal blood is required for fetal testing.), or LabCorp buccal swab kit (Buccal swab collection kit contains instructions for use of a buccal swab.)

Volume

7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS, or LabCorp buccal swab kit

Minimum Volume

3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs

Container

Lavender-top (EDTA) tube, yellow-top (ACD) tube, sterile plastic conical tube or two confluent T-25 flasks for fetal testing, or LabCorp buccal swab kit

Storage Instructions

Maintain specimen at room temperature.