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New Products: Illumina's TruGenome; Personalis' ACE Exome; Sequenom's Enhanced MaterniT21 Plus

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Illumina has launched its TruGenome tests, including ones for undiagnosed disease and a predisposition screen as services through its CLIA-certified and CAP-accredited laboratory. The TruGenome Undiagnosed Disease test is a whole-genome sequencing test, which will be available for order in December, to help physicians diagnose rare or undiagnosed diseases. The test costs $9,500 and has a turnaround time of 90 days. Additionally, Illumina offers the test for trios — the proband and two parents — for $17,500 and a turnaround time of 90 days. TruGenome Predisposition Screen analyzes 1,600 genes for mutations related to 1,220 conditions.


Personalis has launched an early access program for its ACE Clinical Exome test, an exome test that adds additional coverage to fill gaps in 7,000 medically important genes. Turnaround time will be eight to 12 weeks and the company plans to launch the full service in the first quarter of 2014.


Sequenom has launched the Enhanced Sequencing Series for its MaterniT21 Plus test, which will include the reporting of subchromosomal microdeletions, including 22q11.2 deletion syndrome (DiGeorge), Cri-du-chat syndrome, Prader-Willi/Angelman syndrome, 1p36 deletion syndrome, as well as trisomies 16 and 22. It will include these additional findings beginning the last week of October.

The Scan

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In dozens of domestic dogs listening to wolf vocalizations, researchers in Communication Biology see responses varying with age, sex, reproductive status, and a breed's evolutionary distance from wolves.

Facial Imaging-Based Genetic Diagnoses Appears to Get Boost With Three-Dimensional Approach

With data for more than 1,900 individuals affected by a range of genetic conditions, researchers compared facial phenotype-based diagnoses informed by 2D or 3D images in the European Journal of Human Genetics.

Survey Suggests Multigene Cancer Panel VUS Reporting May Vary Across Genetic Counselors

Investigators surveyed dozens of genetic counselors working in clinical or laboratory settings, uncovering attitudes around VUS reporting after multigene cancer panel testing in the Journal of Genetic Counseling.

Study Points to Tuberculosis Protection by Gaucher Disease Mutation

A mutation linked to Gaucher disease in the Ashkenazi Jewish population appears to boost Mycobacterium tuberculosis resistance in a zebrafish model of the lysosomal storage condition, a new PNAS study finds.