Category: Prenatal Diagnosis

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

Primary Ciliary Dyskinesia – Panel

PrenatalSafe® Karyo Plus

PrenatalSafe® is a non-invasive prenatal test that detects chromosomal abnormalities by analyzing cell-free fetal DNA from a pregnant woman’s blood sample.  PrenatalSafe® Karyo Plus represents an evolution of the PrenatalSafe® Karyo test. In addition to the possibility of detecting aneuploidies and structural chromosomal abnormalities affecting each chromosome, with results very similar to the determination of […]

Meckel Gruber Syndrome

Prader-Willi Syndrome (15q11.2)

GExome Clinical

GExome Proband

Primary Ovarian Insufficiency (POI) – FMR1 (FRAXA)

Fragile X, FMR1 (FRAXA) Long-range PCR – II Level Analysis

GExome Prenatal