-- Invitae now offers an extensive genetic testing panel to better
support the needs of clinicians and patients --
SAN FRANCISCO--(BUSINESS WIRE)--
Invitae
Corporation (NYSE:
NVTA), a genetic information company, today announced that it has
expanded its epilepsy
testing menu, now offering an extensive panel with more than 100
carefully curated genes that are among the most clinically significant
for this life-threatening condition. The menu also includes a smaller
panel specifically for early infantile epileptic encephalopathy and one
specifically for syndromic forms of epilepsy. Because Invitae offers
easily customizable panels, physicians can choose to build their own
panels for patients with a clinically unambiguous phenotype or where
biochemical or other testing points to specific genes. For example,
genes for progressive myoclonic epilepsy or creatine deficiency may be
specifically selected for testing.
Invitae’s epilepsy panel includes a number of genes in which discovery
of pathogenic variants would guide clinical management and could lead to
potentially life-saving treatments. These include SCN1A, SLC2A1,
ALDH7A1, SLC6A8, PNPO, and several others. Invitae’s panel also includes
genes for several disorders that fall in the differential diagnosis for
Rett and Angelman syndromes and may be considered in children with
features of these syndromes.
Additionally, Invitae’s epilepsy panel can be combined for no additional
charge with other panels or a single gene test for relevant
developmental disorders where clinically appropriate, such as
RASopathies, ciliopathies, and CHARGE syndrome (CHD7), for those
patients who present with multiple anomalies and require broader testing.
"Providing genetic testing to epilepsy patients in an affordable,
cost-efficient way is key to promoting better overall health for
individuals affected with this devastating range of conditions," said
Elliott Sherr, MD PhD, Professor of Neurology and Pediatrics at UCSF
(Epi4K investigator, PI of Project 1, discovery of the genes responsible
for epileptic encephalopathies). "Invitae's mission not only helps
clinicians identify the underlying genetic causes in epilepsy patients,
but it also promotes contribution of valuable information back to
researchers in the form of collaborations and data-sharing."
"Identifying the underlying genetic causes of epilepsy is a significant
factor in the effective treatment and management of epilepsy. Poorly
controlled or incorrectly treated seizures are both risk factors for
sudden unexplained death in epilepsy (SUDEP), which is a devastating
outcome for any family,“ said Tom Stanton, Executive Director of the Danny
Did Foundation. “By working to make genetic testing widely
accessible and affordable to individuals affected by epilepsy, Invitae’s
epilepsy test could potentially help patients to have a better
understanding of the underlying genetic etiology of epilepsy and reduce
the tragic risk of SUDEP."
Invitae’s team of medical and genetic experts has strong experience in
the field of epilepsy genetics and an awareness of the needs of patients
and advocacy groups. Invitae combines full-gene next-generation
sequencing and deletion/duplication analysis with rigorous
evidence-based variant classification methods to provide clearly
interpreted diagnostic results in an average of three weeks.
"When caring for epilepsy patients, it is critical to provide management
teams as much information as possible," said Robert Nussbaum, MD, chief
medical officer of Invitae. "Genetic information can be key to
implementing proper treatments for seizure control. Invitae strives to
provide clinicians with comprehensive genetic testing results that can
immediately be integrated into patient care."
Invitae offers a transparent pricing structure independent of the number
of genes required to provide an accurate diagnosis for any specific
clinical indication. For payers and institutions that are in contract
with Invitae, the price per indication can be as low as $950, depending
on the payer’s requirements. For third-party payers with whom Invitae is
out-of-network and for non-contracted institutions, the price per
indication is $1,500. In addition, for patients without third-party
insurance coverage or who do not meet insurance criteria for coverage,
Invitae offers its full test menu for $475 per indication for patients
whose clinician has ordered the testing online and who register online
and pay in advance for the testing.
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
single diagnostic service comprising hundreds of genes for a variety of
genetic disorders associated with oncology, cardiology, neurology,
pediatrics and other rare disease areas.
For more information, visit our website at ir.invitae.com
and follow us on Twitter: @invitae
and @invitaeIR.
Safe Harbor Statements
This press release contains forward-looking statements within the
meaning of the Private Securities Litigation Reform Act of 1995,
including statements relating to the company’s belief that it can
accelerate the adoption of comprehensive genetic information into
mainstream medical care and realize its mission; the company’s belief
that providing genetic testing in a cost-efficient way is key to
promoting better overall health for individuals affected with epilepsy;
the company’s ability to help clinicians identify the underlying genetic
causes in epilepsy patients; the importance of genetic information in
implementing proper treatments for seizure control; the ability of the
company’s tests to lead to potentially life-saving treatments; the
timing of any new testing service releases and the attributes of any
such services; the company’s beliefs regarding the benefits of its
pricing program; the benefits of data-sharing and collaboration with
researchers; the attributes and benefits of the company’s tests to
patients, physicians and payers; and the indicators of the company’s
success and its expected actions with respect to those indicators.
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: the company’s
history of losses; the company’s need to scale its infrastructure in
advance of demand for its tests and to increase demand for its tests;
the company’s ability to develop and commercialize new tests and expand
into new markets; the risk that the company may not obtain or maintain
sufficient levels of reimbursement for its tests; risks associated with
the company’s ability to use rapidly changing genetic data to interpret
test results accurately and consistently; the company’s ability to
compete; laws and regulations applicable to the company’s business,
including potential regulation by the Food and Drug Administration; 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
Quarterly Report on Form 10-Q for the quarter ended September 30, 2015.
These forward-looking statements speak only as of the date hereof, and
Invitae Corporation disclaims any obligation to update these
forward-looking statements.

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Source: Invitae Corporation