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. Nov5(11):1813-22.
3. Nestorowicz A. et al., (1998) Genetic heterogeneity in familial hyperinsulinism. Hum Mol Genet. Jul7(7):1119-28. Erratum in: Hum Mol Genet Sep7(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.
Amniotic Fluid: 10 ml in conical tube
Cultured Cells: two confluent T-25 flasks
Additionally, please send:
5-10 ml paternal blood in EDTA (lavender top) in case paternal confirmation studies are necessary
Forms and Brochures
Carrier Screening Requisition and Consent [PDF]
Expanded Ashkenazi Jewish Carrier Screening Brochure [PDF]
Ashkenazi Jewish Carrier Screening Panel