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.
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