Now published: A consensus guideline for newborn screening by mass spectrometry

An updated Consensus Guideline by worldwide experts is now available: See the publication of CLSI document NBS04-Ed2, Newborn Screening by Tandem Mass Spectrometry. The document… Read more

Congenital toxoplasmosis in Austria: Prenatal screening for prevention is cost-saving

Background:  Primary infection of Toxoplasma gondii during pregnancy can be transmitted to the unborn child and may have serious consequences, including retinochoroiditis, hydrocephaly, cerebral calcifications,… Read more

Detect Severe combined immunodeficiency (SCID) early at birth!

We offer TREC (T-cell receptor excision circle) DNA testing from Dried Blood Spots to aid in screening newborns for Severe Combined Immunodeficiency (SCID). SCID is… Read more

Correlation of Lyso-Gb3 levels in Patients with Classic and Later-Onset Fabry

Background: Fabry disease (FD), an X-linked lysosomal storage disorder, results from the deficient activity of α-galactosidase A (α-Gal A) and the accumulation of its substrates,… Read more

Metabolic progression to clinical phenotype in classic Fabry disease

Background: Fabry disease is an X-linked lysosomal storage disorder due to α-galactosidase A (α-Gal A) deficiency. Clinical onset of Fabry disease is preceded by significant… Read more

Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

Background: Fabry disease (FD) is a rare X-linked lysosomal storage disorder due to mutations in the a-galactosidase A gene (GLA) that result in absent or markedly… Read more