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Genetic test can diagnose immune system disorders

Investigators have used next-generation sequencing 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 are hoped to help facilitate better treatment options and earlier diagnosis in family members who may have inherited the same genetic abnormality.

Lead investigator Lloyd J D’Orsogna said: “Genetic testing was costly to perform and was mostly targeted to DNA sequencing of a single or very small number of genes. Therefore, a genetic diagnosis was limited for many patients with primary immunodeficiency disorders (PIDs). Recent advances in genetic technology allow affordable testing of multiple genes from the same individual. We can therefore identify a specific gene that may lead to frequent infections in patients. An earlier and more accurate diagnosis may improve the patient outcome and prevent complications.”

Twenty-two unrelated patients with common variable immunodeficiency, a common type of PID, and a previously unknown genetic diagnosis, were recruited for the study.

DNA samples were tested and processed with a next-generation sequencing panel containing 120 different immune genes.

A total of 130 genetic variants were identified for analysis.

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Image credit | iStock

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