SAN FRANCISCO, April 20, 2017 /PRNewswire/ -- Invitae
Corporation (NYSE: NVTA), one of the fastest growing genetic
information companies, today announced the addition of 80 new
panels alongside updates to an additional 24 panels for the
diagnosis of inherited immunologic and metabolic disorders,
including panels designed to confirm diagnoses suggested by newborn
screening. The new and updated tests further expand the company's
robust menu of high-quality, affordable diagnostic genetic tests
available for use by clinicians.
Many inherited metabolic disorders, such as lysosomal storage
disorders, are caused by genetic changes impacting the production
and regulation of enzymes that help the body function properly.
Additionally, genetic changes impacting the immune system are
responsible for conditions such as primary immunodeficiency (PID).
Comprehensive and accurate genetic testing can help diagnose these
conditions definitively and determine which gene is involved,
thereby enabling patients and clinicians to make informed treatment
decisions.
"When we see children and newborns in whom we suspect a genetic
condition based on clinical, immunological, or biochemical
evidence, including newborn screening tests, we need fast, accurate
testing to avoid a protracted diagnosis process," said Olaf Bodamer, MD, PhD, Associate Chief of
Genetics and Genomics at Boston Children's Hospital. "Well-curated
panels are a cost-effective way to obtain actionable genetic
information quickly for patients, enabling informed decision-making
on a management plan when early intervention may make all the
difference."
Invitae offers flexible testing options for clinicians, who may
choose one or more curated panels designed using up-to-date
knowledge on the genetic changes associated with a wide array of
disorders, or design their own customized tests based on a
patient's unique situation. Regardless of how the clinician chooses
to proceed, panel tests are offered at the same price, with results
available in 10-21 calendar days (14 days on average), and with
clinical consult and genetic counseling services available.
"Genetic disorders affecting metabolism or the immune system are
very serious, often progressive, and typically begin within the
first few months of life. As treatment breakthroughs continue to
advance for these conditions, including enzyme replacement therapy
and gene therapy, the importance of using genetic information to
make an accurate, early diagnosis that can guide clinical
decision-making also grows," said Robert
Nussbaum, MD, chief medical officer of Invitae. "With this
expansion, we are providing a comprehensive array of carefully
designed testing options for clinicians, further enabling the use
of genetic testing to guide diagnosis and medical care."
Among the new panels now available:
- New and updated lysosomal storage disorders (LSD) panels,
covering 52 genes associated with both rare and common, pediatric
and late-onset LSDs, making it one of the broadest panels
available.
- An updated newborn screening confirmation panel that includes
90 genes chosen to meet increasing needs for genetic information to
confirm diagnosis of a wide array of genetic disorders in infants,
including X-linked adrenoleukodystrophy, lysosomal storage
disorders, and organic acidemias.
- A new panel of up to 133 genes for diagnosing treatable
neurometabolic disorders, such as NAGS deficiency, creatine
biosynthesis disorders (AGAT and GAMT deficiencies) and pyridoxine
responsive epilepsy, that enables the early diagnosis critical to
clinical intervention for what are often serious, progressive
conditions.
- A new panel covering more than 200 genes associated with
primary immunodeficiencies, to help clinicians precisely identify
the underlying defect and deliver the most appropriate treatment.
This includes nine new panels covering T/B cell deficiencies,
designed for both Severe Combined Immunodeficiency (SCID) and
Combined Immunodeficiency (CID), to quickly provide an accurate
diagnosis for infants and children identified through newborn
screening or because of severe infections in the first few months
of life.
- A new panel covering 46 genes that are associated with
monogenic forms of inflammatory bowel disease. These disorders can
be difficult to diagnose with traditional testing, but a confirmed
diagnosis can help guide clinical management decisions.
Importantly, Invitae includes deletion/duplication analysis with
all testing at no extra charge, which enables identification of the
roughly 5-10% of pathogenic variants that have been traditionally
considered hard to identify via next-generation sequencing.
More information about the new panels, as well as Invitae's full
test menu, is available at the company's website
www.invitae.com.
About Invitae
Invitae Corporation's (NYSE: NVTA)
mission is to bring comprehensive genetic information into
mainstream medical practice to improve the quality of healthcare
for billions of people. Invitae's goal is to aggregate most of the
world's genetic tests into a single service with higher quality,
faster turnaround time, and lower price than many single-gene and
panel tests today. The company currently provides a diagnostic
service comprising hundreds of genes for a variety of genetic
disorders associated with oncology, cardiology, neurology,
pediatrics, and other rare disease areas. Additionally, the company
has created a Genome Network to connect patients, clinicians,
advocacy organizations, researchers, and therapeutic developers to
accelerate the understanding, diagnosis, and treatment of
hereditary disease. For more information, visit our website at
invitae.com.
Safe Harbor Statements
This press release contains
forward-looking statements within the meaning of the Private
Securities Litigation Reform Act of 1995, including statements that
genetic testing can help diagnose conditions definitively and
enable patients and clinicians to make informed treatment
decisions; that well-curated panels are a cost-effective way to
obtain actionable genetic information quickly and enable informed
decision-marking on a management plan; and that the company's new
panel enables early diagnosis critical to clinical intervention.
Forward-looking statements are subject to risks and uncertainties
that could cause actual results to differ materially, and reported
results should not be considered as an indication of future
performance. These risks and uncertainties include, but are not
limited to: risks associated with the company's ability to
develop and commercialize new tests and expand into new markets;
the company's ability to use rapidly changing genetic data to
interpret test results accurately and consistently; the company's
ability to develop tests to keep pace with rapidly changing
technology and new and increasing amounts of scientific data; the
company's history of losses; laws and regulations applicable to the
company's business; and the other risks set forth in the company's
filings with the Securities and Exchange Commission, including the
risks set forth in the company's Annual Report on Form 10-K for the
year ended December 31, 2016. These
forward-looking statements speak only as of the date hereof, and
Invitae Corporation disclaims any obligation to update these
forward-looking statements.
NOTE: Invitae and the Invitae logo are trademarks of Invitae
Corporation. All other trademarks and service marks are the
property of their respective owners.
Contact:
Laura D'Angelo
pr@invitae.com
314-920-0617
To view the original version on PR Newswire,
visit:http://www.prnewswire.com/news-releases/invitae-announces-expansion-of-its-genetic-test-menu-with-addition-of-new-tests-and-expanded-panels-for-inherited-metabolic-and-immune-system-disorders-including-panels-to-confirm-diagnoses-suggested-by-newborn-screening-300441350.html
SOURCE Invitae Corporation