Challenges in Inherited Disease Testing
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.