Foundation Medicine has launched FoundationOne Heme, a next-generation sequencing-based test that looks for genomic alterations in 405 genes related to hematological cancers. The test also incorporates RNA sequencing of 265 genes to look for gene fusions.
InVitae has launched a BRCA1/2 test that includes full gene sequencing and duplication/deletion analysis for $1,500. The test has a two-week turnaround time. Additionally, the firm offers clinicians the option of upgrading to panels that look beyond the BRCA genes for no additional cost. Those panels include a 6-gene women's high risk breast cancer panel; an 18-gene women's hereditary cancer panel that includes genes associated with hereditary breast, ovarian, and endometrial cancer; and a 29-gene comprehensive hereditary cancer syndrome panel.
Ariosa Diagnostics has made its noninvasive fetal aneuploidy test, the Harmony Prenatal Test, available in Germany through a collaboration with Sonic Healthcare Limited. Sonic Healthcare Germany will offer the Harmony test through its national network of specialist laboratories and will co-ordinate the launch via its Bioscientia Center for Human Genetics in Ingelheim near Frankfurt.
Sequenta has launched its ClonoSight test for patients with multiple myeloma and diffuse large B-cell lymphoma. The test uses Sequenta's proprietary LymphoSight platform and next-generation sequencing to detect minimal residual disease in lymphoid cancers and was originally launched for acute lymphoblastic leukemia, chronic myeloid leukemia, and mantle cell lymphoma in February 2013.
Connective Tissue Gene Tests has launched gene panel tests for a variety of connective tissue disorders including both the dominant and recessive forms of osteogenesis imperfecta, osteopetrosis, skeletal dysplasia ciliopathy, and Stickler syndrome. The panels use both next-generation sequencing and microarrays.
SoftGenetics has launched the latest version of its GeneMarker Software, which now includes a module for faster and more accurate calculation of Fragile X triplet CGG repeats and percent methylation.