Genetic test can diagnose certain immune system disorders

Primary immunodeficiency disorders (PID) can result in chronic and sometimes life-threatening infections. More than 450 PIDs have been described, but timely and accurate diagnoses remain a challenge. In a new study in The Journal of Molecular Diagnostics, investigators used next-generation sequencing technology to test a DNA panel of 130 different immune system genes from 22 study participants. They found that many patients had inherited a genetic defect that caused a disorder in their immune system. These findings will facilitate better treatment options and earlier diagnosis in family members who may have inherited the same genetic abnormality. 
Primary immunodeficiency disorders (PID) can result in chronic and sometimes life-threatening infections. More than 450 PIDs have been described, but timely and accurate diagnoses remain a challenge. In a new study in The Journal of Molecular Diagnostics, investigators used next-generation sequencing technology to test a DNA panel of 130 different immune system genes from 22 study participants. They found that many patients had inherited a genetic defect that caused a disorder in their immune system. These findings will facilitate better treatment options and earlier diagnosis in family members who may have inherited the same genetic abnormality.