Category: Analisi

Wolf-Hirschhorn Syndrome (del4p16.3)

PrenatalSafe® Karyo

PrenatalSafe® is a non-invasive prenatal test that detects chromosomal abnormalities by analyzing cell-free fetal DNA from a pregnant woman’s blood sample.  The PrenatalSafe® Karyo test detects aneuploidies and structural chromosomal abnormalities in the fetus on each chromosome, with results very similar to the determination of the fetal karyotype performed with invasive prenatal diagnosis procedures, as […]

Nemaline Myopathy

Piebaldism

Brugada Syndrome

Cystic Fibrosis 152 mutations, Europe panel (25 Italian mutations) (NGS CE-IVD)

Interleukin 2 G-385T

Primary Ciliary Dyskinesia – Panel

Primary Hyperoxaluria Type 1, 2, 3 – Panel

Dopa-Responsive Dystonia