Every year, millions of newborns undergo routine screening as a preventive strategy to detect inherited disorders before ...

Every year, millions of newborns undergo routine screening as a preventive strategy to detect inherited disorders before symptoms emerge. Newborn ...

Next-generation sequencing (NGS) has transformed genomic research and clinical diagnostics by enabling rapid, high-throughput analysis of genetic material. The application of NGS to formalin-fixed ...

Life sciences and diagnostics company Revvity has had a busy couple of years, playing a major role in the next-generation sequencing-based screening of newborns to better enable healthcare ...

Patients with multiple CALMs w/wo skinfold freckling and no other typical NF1 associated features (Lisch nodules, bone abnormalities, neurofibromas, optic pathway gliomas). The DNA-based ...

Bulk harvest release testing for adventitious viruses is an integral part of biosafety for manufacturing biopharma products. Finding a testing strategy that works for diverse biologics modalities ...

Patients with classic NF1 including the presence of cutaneous neurofibromas or Lisch nodules, as no genetic heterogeneity demonstrated so far associated with this phenotype. The NF1-only by NGS ...