News

Di George disease now available for testing

 

Amplexa Genetics A/S adds a test for Di George disease to its panel of tests. Absence or dysfunction of the parathyroid glands is one of the components of chromosome 22q11 microdeletion syndrome DiGeorge. DiGeorge syndrome is a childhood disease in which hypoparathyroidism occurs due to a total absence of the parathyroid glands at birth. The test is a test for deletions in the critical region on chromosome 22.