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New Products: Ambry's First-Step Exome; Greenwood Genetic Center's Autism Panel; and More

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Ambry Genetics has launched the First-Step Exome test, a sequencing-based test that analyzes the exons and flanking intronic regions of 4,400 genes that are known to be associated with human disease and are defined within the Human Gene Mutation Database. Ambry is marketing the test to clinicians who are considering exome testing for disease phenotypes that have many previously defined genes, but for which traditional testing may be cost-prohibitive.

The test adds to a whole-exome clinical sequencing service that the company launched last year called Clinical Diagnostic Exome (CSN 10/5/2011).


Greenwood Genetic Center has launched the Syndromic Autism 62-Gene Panel, which is based on RainDance's ASDSeq Research Screening Panel, a research-use-only panel that targets 62 genes related to autism.

The Syndromic Autism 62-Gene Panel sequences 62 individual autosomal and X-linked genes that are the most common single-gene etiologies associated with autism spectrum disorders and syndromes in which autism is a significant phenotypic feature.


Cartagenia has released Bench Lab NGS, software for the clinical analysis and interpretation of next-gen sequencing data. The software stores and annotates genomic variants and patient information, identifies disease-causing mutations, validates clinical findings on existing data sets, and generates lab reports.


Ion Torrent has launched AmpliSeq Custom Panels and AmpliSeq Designer for targeted resequencing. AmpliSeq Designer is an online tool that will allow users to custom order panels for sequencing on the Ion Torrent PGM.

The customized panels require 10 nanograms of input DNA, can include up to 1,536 amplicons per tube, and can target between 1 kilobase to 250 kilobases, according to the company.

The Scan

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.

Rett Syndrome Mouse Model Study Points to RNA Editing Possibilities

Investigators targeted MECP2 in mutant mouse models of Rett syndrome, showing in PNAS that they could restore its expression and dial down symptoms.

Investigators Find Shared, Distinct Genetic Contributors to Childhood Hodgkin Lymphoma

An association study in JAMA Network Open uncovers risk variants within and beyond the human leukocyte antigen locus.

Transcriptomic, Epigenetic Study Appears to Explain Anti-Viral Effects of TB Vaccine

Researchers report in Science Advances on an interferon signature and long-term shifts in monocyte cell DNA methylation in Bacille Calmette-Guérin-vaccinated infant samples.