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New Products Posted to GenomeWeb: Sema4, NuGen, Seq2Know

Sema4 NIPT and Expanded Carrier Screening Tests

Sema4 has launched a noninvasive prenatal test and an expanded carrier screening test, which it developed using its Sema4 Health Intelligence Platform. The NIPT is available in three options: a standard panel that tests for trisomies 21, 18, and 13; a standard plus panel that also includes trisomies 15, 16, and 22, as well as sex chromosome aneuploidies; and an expanded panel that includes all of the above plus some microdeletions.

The expanded carrier screen can test more than 280 genes, including 101 genes associated with Jewish founder mutations. Patients also have the option of analyzing a smaller subset of genes.


NuGen mRNA-Seq Library Preparation Kit

NuGen Technologies, acquired by Tecan earlier this month, has launched new mRNA-seq library preparation kits integrated with the NuQuant library quantification method. The library quantification method allows researchers to directly measure NGS library molar concentration or the number of sequenceable molecules in seconds. Researchers can quantify NGS libraries using NuQuant's method on standard fluorometers. 


Seq2Know Familial Hypercholesterolemia Testing

Seq2Know has begun offering familial hypercholesterolemia testing. Its test includes the sequencing of four genes — LDLR, APOB, PCSK9, and LDLRAP1 — that cause FH. Like all of Seq2Know's tests, the FH test is ordered directly from the company and reviewed by PWNHealth, an independent physician network, for patient appropriateness. Genetic counseling is also available through PWNHealth. Seq2Know is a testing service of PreventionGenetics, a DNA testing lab offering genetic sequencing services.


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

Filed under

The Scan

Wolf Howl Responses Offer Look at Vocal Behavior-Related Selection in Dogs

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.