GTR Home > Tests > Test for Diabetes Mellitus, 6q24-Related Transient Neonatal

Overview

Conditions for which test is offered: Diabetes Mellitus, 6q24-Related Transient Neonatal

Testing Method

Not provided

Description of ResearchHelp

  • Transient neonatal diabetes (TNDM) is caused by dysregulation of an imprinted locus on chr6q24; in 20% of cases there is loss of maternal methylation (LOMM) at the TND locus in the absence of any other detectable gene defect. Over 50% of TND patients with LOMM at 6q24 are also hypomethylated at other imprinted loci, caused in some cases by mutations in ZFP57, a zinc-finger gene expressed in early developmental lineages; these patients share a spectrum of epigenetic anomalies and have heterogeneous clinical features additional to TNDM.

Contact Policy Help

Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Laboratory can only accept contact from health care providers. Patients/families interested in participating in a research study should discuss this option with their health care provider.

Suggested reading

  • Gardner, 2000
    An imprinted locus associated with transient neonatal diabetes mellitus.

Clinical resources

Practice guidelines

  • ACMG, 2001
    American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy

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