News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.
The companies will work together to identify the genetic mutations that cause the rare genetic lysosomal storage disorder alpha mannosidosis.
The firm's assay measures the concentration of the wild type and mutant alleles of hFE protein at three different mutation sites from a person's blood sample.
The disease is an inherited form of muscular dystrophy characterized by a repeat expansion of 50 CTG trinucleotides or greater in the DMPK gene.
The firm believes its Parsortix cell separation system, so far used for oncology, can extract rare fetal cells from maternal blood to detect genetic disorders.
Through the Alnylam Act program, patients suspected of having the rare disease or with a family history of the illness will receive testing at no cost.
