Here is an exerpt:

Mutations in ABCC8, KCNJ11, GLUD1, GCK, and HADHSC are known to be associated with FHI. About 45% of affected individuals have mutations in ABCC8 and about 5% havemutations in the coding region of KCNJ11. Approximately 5% of individuals have activating mutations in GLUD1. Rarely, affected individuals have activating mutations in GCK or inactivating mutations inHADHSC. About 40% of individuals with FHI do not have an identifiable mutation in any of the genes known to be associated with FHI. In the Ashkenazi Jewish population, two ABCC8 founder mutationsare responsible for about 90% of FHI. Another ABCC8 founder mutation, V187D, is present in the Finnish population. Mutation analysis for these two mutations and mutation scanning and sequence analysis of ABCC8, KCNJ11, GLUD1, and GCK are available on a clinical basis.

Find the full article here.

In evaluating the potential for this test to prevent damage caused by untimely diagnosis of HI, it is important to remember that a number of different genetic mutations are known to cause HI, and in many people, the genetic basis for HI is still not know.   The efficacy of the Counsyl test has yet to be reviewed by outside experts.   Still if the results turn out to be accurate and this test or others like it are widely used some time in the future, it could represent a great step forward for timely diagnosis and treatment of HI and other rare disorders.

Click here for the NY Times article.

Julie Raskin
V.P. Congenital Hyperinsulinism International
jraskin@congenitalhi.org

http://www.endocrine-abstracts.org/ea/0016/ea0016pl5.htm