Familial Hyperinsulinism

Test Description:

Familial hyperinsulinism (HI) is an autosomal recessive disorder of pancreatic [beta]-cell function and is characterized by inadequate suppression of insulin secretion in the presence of severe, recurrent, fasting hypoglycemia. Clinical manifestations of HI, which occur predominantly in neonates and infants under 1 year of age, include seizures, coma and large birth weight for gestational age. In the absence of treatment, HI may be lethal or result in irreversible neurologic sequelae. The incidence of HI is increased among the Ashkenazi Jewish community, where the carrier frequency of approximately 1 in 68. Screening for two ABCC8  mutations [c.3989-9G>A (3992-9G>A), p.F1387del (delF1388)] will detect approximately 90% of Ashkenazi Jewish HI carriers. Carrier screening for HI may be considered for individuals of Eastern European (Ashkenazi) Jewish ancestry before or during pregnancy.

Full gene sequencing is available for reproductive partners of known mutation carriers. Prenatal diagnosis is also available. Prior to ordering prenatal testing, please contact our laboratory at 121-241-7518 to discuss.


1. Glaser B. et al., (1999) Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism. Hum Mutat.;14(1):23-9.
2. Nestorowicz A. et al., (1996) Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum Mol Genet. Nov;5(11):1813-22.
3. Nestorowicz A. et al., (1998) Genetic heterogeneity in familial hyperinsulinism. Hum Mol Genet. Jul;7(7):1119-28. Erratum in: Hum Mol Genet Sep;7(9):1527.
4. Scott, S.A., Edelmann, L., Liu, L., Luo, M., Desnick, R.J. and Kornreich, R. Experience with carrier screening and prenatal diagnosis for sixteen Ashkenazi Jewish Genetic Diseases. Hum. Mutat. 31:1-11, 2010.

Specimen Requirements:

Post-natal: Two 5-10 mL tubes of anticoagulated blood in EDTA (lavender top) or two 5-10 mL tubes of anticoagulated blood in ACD (yellow top).


  • Chorionic Villi: 5-10 mg in conical tube with sterile saline OR transport media
  • Amniotic Fluid: 10 ml in conical tube
  • Cultured Cells: two confluent T-25 flasks

Additionally, please send:

  • 5-10 ml maternal blood in EDTA (lavender top) required to perform MCC studies on all prenatal samples and in case maternal confirmation studies are necessary
  • 5-10 ml paternal blood in EDTA (lavender top) in case paternal confirmation studies are necessary

Shipping: Send at room temperature.

Turnaround Time: 10-14 days

CPT Code: 81401

Consent and requisition forms: Carrier Screening Requisition and Consent [PDF]

Additional information: Expanded Ashkenazi Jewish Carrier Screening brochure [PDF]

Related Tests: Ashkenazi Jewish Carrier Screening Panel