Newborn and carrier screening depend on accurate molecular testing to deliver high quality care. Many of the technologies available are expensive and time consuming and either restrict assay content to a limited number of analytes that are only applicable to one population or generate clinical non-relevant data.
Cystic Fibrosis Screening
The iPLEX Pro Cystic Fibrosis panel is a cost-effective way to detect 74 of the most common disease-causing mutations of the CFTR gene. It includes the 23 mutations recommended by the ACMG and ACOG and 49 variants with known CFTRrelevance and allele frequency >0.1%.
Employ robust assays to identify mutations in GJB2, GJB3, SLC26A4, MTRNR1, and other genes to study congenital profound hearing loss in newborns.