News

 

To extend the scope of endocrinology related analysis provided Amplexa Genetics A/S now launches test for Rickets including test for mutations in PHEX, FGF23, CLCN5, CYP27B1, SLC34A3 and DMP1. The tests provided are a screen of all exons and exon-intron boundaries. Thus the tests allows the analysis of all familial known mutations and tests of any new mutation in a previously not characterized family.

More
 

Tests for mutations of the Col1A1 and Col1A2 genes have been established. Mutations in these two very large genes results in Osteogenesis Imperfecta. The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.

More
 

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.

More
 

Amplexa Genestics A/S extends the number of endocrinology related tests to include test for PTHR1, the cause of Familial isolated Hypoparathyroidism. The test extends Amplexa Genetics A/S´s panel of tests related malfunction of Calcium homeostasis.

More

The test panel has been expanded to include analysis for Cystic Fibrosis. The test that Amplexa Genetics A/S offers is a test for either known familial or population specific mutations, or a screening of the entire gene for unknown variants. As the number of known variants exceeds 1.500 different mutations this latter option is highly relevant in any family or individual in which a mutation has not previously been described.

More