Verinata Health said this week that it will expand its Verifi prenatal test to include the detection of common sex chromosome abnormalities. Starting in December, the expanded Verifi test, which is available as an option, will include the detection of Turner syndrome, or monosomyX; trisomy X; Klinefelter syndrome (XXY); and XYY syndrome. In addition, the test may aid in the determination of X-linked disorders, such as hemophelia, Duchenne muscular dystrophy, or cases o ambiguous genitalia such as congenital adrenal hyperplasia.
The current Verifi test detects Down syndrome, or trisomy 21; Edwards syndrome, or trisomy 18; and Patau syndrome, or trisomy 13. It is offered for pregnant women of at least 10 weeks gestation who are at high risk of carrying a fetus with a genetic abnormality.
Life Technologies this week introduced Ion AmpliSeq Community Panels, PCR-amplified gene panels for sequencing that it is developing in collaboration with experts in specific disease areas. Among them is the Ion AmpliSeq Community Panel for lung and colon cancer, a 22-gene panel the company developed with the OncoNetwork Consortium in Europe. It includes more than 500 mutations and requires 10 nanograms of input DNA per primer pool.
The company is also working with other researchers to develop an Ion AmpliSeq AML Panel for acute myeloid leukemia; an Ion AmpliSeq BRCA1/2 Panel for breast and ovarian cancer; an Ion AmpliSeq Cardio Panel for heart disease; an Ion AmpliSeq CFTR Panel for cystic fibrosis and an Ion AmpliSeq TP53 Panel for cancer. Users can add ore remove gene content to the panels to fit their individual needs.
In addition, the company announced Ion Reporter v1.2, an upgrade to its software that simplifies sequencing data analysis and interpretation with an automated point-and-click workflow. The new version enables users to rapidly process genomic data using predefined workflows optimized for specific sequencing panels and for the most popular experimental designs, such as an oncology tumor-normal workflow or an inherited disease workflow for analyzing trios. The software also includes a new collaborations feature that allows users to share samples, analyses, and results with others. In addition, Ion Reporter v1.2 is now integrated with the Ingenuity Variant Analysis workflow, allowing users to use the Ingenuity Knowledge Base to identify biologically relevant variants. Both Ion Reporter 1.2 and the Ingenuity Variant Analysis workflow are available free of charge until the end of 2012.