GAITHERSBURG, Md., Jan. 26, 2021 /PRNewswire/ -- GeneDx, Inc.,
a wholly owned subsidiary of BioReference Laboratories, Inc., an
OPKO Health company (NASDAQ:OPK), today launched several new
genetic tests, including repeat expansion analysis for
spinocerebellar ataxia (SCA), Friedreich ataxia, and other common
forms of hereditary ataxias. With these additions, GeneDx has
created a comprehensive and affordable offering that covers the
vast majority of genes involved with pediatric-onset and
adult-onset ataxias.
GeneDx launched new tests, including repeat expansion analysis for
SCA, Friedreich ataxia, and other common ataxias.
Ataxia refers to clumsiness or a loss of balance and
coordination that is not due to muscle weakness. While there are a
number of factors that can cause ataxia, approximately 60-70% of
ataxia cases have an underlying genetic cause.1,2
Genetic testing for adult-onset ataxia is currently limited to a
small number of diagnostic laboratories, most of which only offer a
portion of the relevant testing, have long turnaround times, and
high out of pocket costs to patients.
Most types of adult onset hereditary ataxia are caused by
nucleotide repeat expansions within the deoxyribonucleic acid (DNA)
and are usually identified by specialized testing. The remaining
types of hereditary ataxia may be caused by single nucleotide
variants (SNVs) and copy number variants (CNVs) that can be
identified by sequencing and deletion/duplication testing.
"Individuals with ataxia need more diagnostic testing options
for genetic forms of the disease," said Amanda Lindy, Ph.D.,
FACMG, Director of Neurogenetics for GeneDx. "Historically, genetic
testing for ataxia has been limited, creating a barrier for some
individuals to obtain testing. GeneDx's expanded test offerings
provide the flexibility of ordering single or multi-gene repeat
expansion analyses, concurrently or reflexively, with a
phenotypically driven Xpanded panel or an exome. Thus covering the
broadest possible differential, delivering more answers to patients
and their families, and enabling precision medical management."
"GeneDx has a deep clinical knowledge of the ataxias and related
movement disorders, gained from our long history and
industry-leading development of neurogenetic testing,"
said Sean Hofherr, Ph.D., FACMG, Executive Vice President and
CLIA Laboratory Director of GeneDx. "Expanding our menu to include
adult-onset ataxias, in addition to the existing portfolio for
childhood-onset ataxias, underscores GeneDx's commitment to rare
disease identification as well as filling an unmet need for
patients and providers, alike."
About GeneDx, Inc.
GeneDx, Inc. is a global leader in
genomics, providing testing to patients and their families from
more than 55 countries. Led by its world-renowned clinical genomics
program, GeneDx has an acknowledged expertise in rare and
ultra-rare genetic disorders, as well as one of the broadest menus
of sequencing services available among commercial laboratories.
GeneDx offers a suite of additional genetic testing services,
including diagnostic testing for hereditary cancers, cardiac,
mitochondrial, neurological disorders, prenatal diagnostics and
targeted variant testing. GeneDx is a subsidiary of BioReference
Laboratories, Inc., a wholly owned subsidiary of OPKO Health, Inc.
To learn more, please visit www.genedx.com.
About OPKO Health
OPKO is a multinational biopharmaceutical and diagnostics company
that seeks to establish industry-leading positions in large,
rapidly growing markets by leveraging its discovery, development,
and commercialization expertise and novel and proprietary
technologies. For more information, visit www.opko.com.
Cautionary Statement Regarding Forward-Looking
Statements
This press release contains "forward-looking statements," as
that term is defined under the Private Securities Litigation Reform
Act of 1995 (PSLRA), which statements may be identified by words
such as "expects," "plans," "projects," "will," "may,"
"anticipates," "believes," "should," "intends," "estimates," and
other words of similar meaning, including statements regarding
GeneDx's test offerings and the effectiveness and utility of its
ataxias tests, as well as other non-historical statements about our
expectations, beliefs or intentions regarding our business,
technologies and products, financial condition, strategies or
prospects. Many factors could cause our actual activities or
results to differ materially from the activities and results
anticipated in forward-looking statements. These factors include
those described in the OPKO Health, Inc. Annual Reports on Form
10-K filed and to be filed with the Securities and Exchange
Commission and in its other filings with the Securities and
Exchange Commission. In addition, forward-looking statements may
also be adversely affected by equipment and reagent shortages,
general market factors, competitive product development, product
availability, federal and state regulations and legislation, the
regulatory process for new products and indications, manufacturing
issues that may arise, patent positions and litigation, among other
factors. The forward-looking statements contained in this press
release speak only as of the date the statements were made, and we
do not undertake any obligation to update forward-looking
statements. We intend that all forward-looking statements be
subject to the safe-harbor provisions of the PSLRA.
References:
- Fogel, Brent L et al. "Exome sequencing in the clinical
diagnosis of sporadic or familial cerebellar ataxia." JAMA
neurology vol. 71,10 (2014): 1237-46.
doi:10.1001/jamaneurol.2014.1944
- NĂ©meth, Andrea H et al. "Next generation sequencing for
molecular diagnosis of neurological disorders using ataxias as a
model." Brain: a journal of neurology vol. 136,Pt 10 (2013): 3106-18.
doi:10.1093/brain/awt236.
View original content to download
multimedia:http://www.prnewswire.com/news-releases/opko-healths-genedx-adds-repeat-expansion-analysis-genetic-tests-for-diagnosis-of-spinocerebellar-ataxia-sca-friedreich-ataxia-and-other-common-forms-of-hereditary-ataxia-301214623.html
SOURCE GeneDx, Inc.