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The firm has collaborated with Novartis to help pilot the new sickle cell disease test and a treatment in Ghana.
The assays quantitatively measure the activity of galactose-1-phosphate uridylyltransferase and biotinidase enzymes from newborn dried blood spot specimens.
Public Health England will use the company's Victor EnLite instrument and EnLite Neonatal TREC kit at three of six sites to evaluate screening newborns for "Bubble Boy" disease.
Clinical genomics is just one business area for PHIX, which also intends to sell genomic tools and introduce a variety of agriculture and lifestyle-focused tests.
The company provided updates on its newborn screening testing presence.
Under the partnership, Heidelberg-based Eluthia will become the primary distributor of BGI's NIFTY noninvasive prenatal test in Germany.
During an NIH meeting, researchers from four newborn sequencing research projects discussed results of their studies and future implications.
The researchers are developing immuno-selected-reaction monitoring (SRM) mass spec to measure proteins linked to various immunodeficiency disorders.
The molecular test detects a form of herpes virus that can infect newborns and cause deafness.
The platform, which Waters introduced last month, uses flow-injection tandem mass spectrometry to enable high-throughput analysis of dried blood spots.