Cyclic Vomiting Syndrome

Cyclic vomiting syndrome (CVS) is a relatively common, and often misdiagnosed condition. Both children and adults can have this condition. The vomiting is intense and accompanied by disabling nausea. Episodes can last for hours or days and often there may be periods of time where you have no symptoms. Often patients will have episodes for multiple years before the diagnosis is considered.

Mitochondrial dysfunction is believed to be a factor in the pathogenesis of cyclic vomiting syndrome. Identifying that there is an underlying mitochondrial component to CVS can be very helpful, and allows doctors to consider directed treatment options. Until recently, CVS has been difficult to diagnose because episodes can be infrequent and misdiagnosed.

Fortunately, genetic testing can now identify specific variants responsible for mitochondrial dysfunction.  Courtagen Life Sciences offers two Next Generation Sequencing tests to identify variants involved in mitochondrial function.

  • The mtSEEK® test provides mitochondrial genome sequencing with deletion detection and heteroplasmy analysis of all 37 genes of the mitochondrial genome.
  • The nucSEEK® test is a comprehensive sequence analysis of over 1,100 genes in the nuclear mitochondrial exome. These nuclear DNA gene products are involved in maintaining proper mitochondrial function.