By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.
Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.
Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center
Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital
Familial Hyperinsulinism is a rare Ashkenazi Jewish inherited disease with a carrier frequency of (1 in 66) and affects (1 in 7800) pregnancies.
Familial Hyperinsulinism: Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.
Familial Hyperinsulinism is characterized by an excessive production of insulin. Symptoms can present shortly after birth, can be variable and may include lethargy, low muscle tone, irritability, poor sleeping, feeding problems and low blood sugar (hypoglycemia). Early diagnosis can help prevent learning disabilities and result in a normal life span.
*The Ashkenazi Jewish Screen is available in a variety of Panels:
- Basic Panel – 3 Diseases
- Expanded Panel – 8 Diseases
- *Full Panel – 18 Diseases – (One company is running a 3 part Ashkenazi panel that has up to 39 diseases)
*The Full Panel is now also part of many Microarray Panels that can test for over 100 diseases.
The Jewish population is the United States as of 2012 was 6,543,820 making up 2.1% of the entire U.S. population (1).
The Ashkenazi Jewish Inherited Disease Panel was created to help screen for specific ethnic inherited diseases. Preconceptional testing is suggested to help identify or rule-out the parents as being carriers.
(1) US Census Bureau, Statistical Abstract of the United States, 2012