Inherited diseases

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%.

Hearing impairment

Employ robust assays to identify mutations in GJB2, GJB3, SLC26A4, MTRNR1, and other genes to study congenital profound hearing loss in newborns.

Other pre-designed panels

All assays are for research use only, not for use in diagnostic procedures.

Need a unique solution? SEQ-IT can help with custom assay design service.