Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Molecular Genetics Laboratory Familial Hyperinsulinism

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 Ashkenazi Jews, with a carrier frequency of approximately 1 in 68. Screening for two ABCC8 (SUR1) mutations [c.3989-9G>A (3992-9G>A), p.F1387del (delF1388)] will detect approximately 90% of Ashkenazi Jewish carriers of HI. Carrier screening for HI may be considered for individuals of Eastern European (Ashkenazi) Jewish ancestry before/during pregnancy.

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:
Two 5-10 ml tubes of anticoagulated blood. The preferred anticoagulant is EDTA (lavendar top tubes), ACD (yellow top) tubes are also accepted.

Shipping: Send at room temperature.

Turnaround Time: 10-14 days

CPT Codes: 83891, 83892x2, 83900, 83912, 83914x2

Consent and Requisition Forms: Carrier Screening Requisition and Consent [PDF]

Additional Information: Jewish Genetic Screening Brochure [PDF]

Related Tests: Ashkenazi Jewish Carrier Test Panel

Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.