The Human Advantage

Advanta Genetics-Asuragen Collaboration in Carrier Genetics

• June 8

Advanta Genetics has established a collaboration with molecular diagnostics company Asuragen and Oxford Nanopore Technologies to advance carrier genetic screening by utilizing long-read sequencing technology. Advanta Genetics was selected for evaluating an early prototype PCR/Nanopore molecular assay for screening SMN1/2, FMR1, and CFTR pathogenic variants.

Advanta Genetics offers carrier screening for spinal muscular atrophy, Fragile X, and Cystic Fibrosis using polymerase chain reaction (PCR) and capillary electrophoresis (CE). Genes linked with these genetic conditions are challenging to sequence using existing short-read sequencing technology. Asuragen is developing the first sequencing system to identify mutations in carrier genes using Oxford Nanopore's long-read DNA sequencing capabilities. In this new innovative technology, Asuragen's long-range PCR and Oxford Nanopore's long-read sequencing capabilities will be combined to form a single workflow sequencing system for carrier screening. Advanta Genetics has joined the collaboration to evaluate the adaptability in clinical testing.

Advanta Genetics Scientists Sadia Almas, Ph.D. and Rahul Sharma, Ph.D. with Asuragen and Oxford Nanopore Technologies inside Advanta's genetic sequencing department