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New Products Posted to GenomeWeb This Week: Invitae, Fluidigm, and PGDx

Invitae Pediatric, Neurological, and Rare Disease Test Expansion

Invitae has launched 42 new and 19 expanded genetic test panels as part of the company's pediatric, neurological, and rare disease offerings. The new offerings allow clinicians to gain information on 183 genes with clinical and diagnostic significance. The expanded offerings include comprehensive testing for epilepsy and epilepsy-related disorders; an expansion of panel testing for developmental disorders, overgrowth syndromes, skeletal disorders, and RASopathies/Noonan spectrum disorders; incorporation of the latest genetic findings for ciliopathies; and consolidation of clinical areas, enabling customers to order a broader set of tests that are relevant for the patient.


Fluidigm Medium-Cell HT IFC

Fluidigm has launched its medium cell, high-throughput integrated fluidic circuit to isolate single cells for mRNA sequencing analysis. The circuit captures up to 800 medium-size cells with higher single-cell capture efficiency, which enables researchers to scale cell lineage studies using Fluidigm's C1 system, the company said. The new workflow supports the identification of cell subpopulations present at low abundance across a wide range of cell types, including cancer and stem cells.


PGDx CancerSELECT 125 Test

Personal Genome Diagnostics has launched the CancerSELECT 125 test for pan-cancer tumor profiling. The test identifies clinically actionable and functionally important sequence mutations, and structural alterations across multiple cancer types using the company's proprietary technologies and bioinformatics. The test also reports microsatellite instability status to assess potential response to checkpoint inhibitor therapies. Additionally, it includes matched sequencing of normal patient tissue to accurately filter out germline variants.


For more new products and services, please visit the New Products page on our website. 

The Scan

Cancer Survival Linked to Mutational Burden in Pan-Cancer Analysis

A pan-cancer paper appearing in JCO Precision Oncology suggests tumor mutation patterns provide clues for predicting cancer survival that are independent of other prognostic factors.

Australian Survey Points to Public Support for Genetic Risk Disclosure in Relatives of At-Risk Individuals

A survey in the European Journal of Human Genetics suggests most adult Australians are in favor of finding out if a relative tests positive for a medically actionable genetic variant.

Study Links Evolution of Stony Coral Skeleton to Bicarbonate Transporter Gene

A PNAS paper focuses on a skeleton-related bicarbonate transporter gene introduced to stony coral ancestors by tandem duplication.

Hormone-Based Gene Therapy to Sterilize Domestic Cat

A new paper in Nature Communication suggests that gene therapy could be a safer alternative to spaying domestic cats.