New additional test complements Castle’s DecisionDx-UM gene
expression profile test
Optimized laboratory process allows for reporting of three
independent tests from a single biopsy
FRIENDSWOOD, Texas–(BUSINESS WIRE)– Castle Biosciences, Inc., a provider of molecular diagnostics to improve
cancer treatment decisions, today announced the launch of the DecisionDx®-UMSeq
panel that uses next-generation sequencing (NGS) to identify somatic
mutations in genes relevant to uveal melanoma (UM). The new test will
complement Castle Biosciences’ standard-of-care DecisionDx®-UM
gene expression profile (GEP) test that has been shown to be independent
of and superior to mutational analysis in assessing likelihood of
metastasis in UM.
The GEP test currently provides the best and most well-validated
prognostic information about UM tumors. The additive role that the new
DecisionDx-UMSeq results may provide in combination with
DecisionDx-UM GEP results is undergoing refinement.
“For patients with uveal melanoma, tumor tissue is very limited, so it
is imperative that we gain as much information as possible about a uveal
melanoma tumor from a single precious biopsy,” noted Federico A. Monzon,
M.D. FCAP, Chief Medical Officer of Castle Biosciences. “Offering
sequencing services from the same biopsy sample provided for the
standard-of-care DecisionDx-UM test enables patients to receive
actionable information from the most robust prognostic test available,
while also obtaining mutational information that may enable a better
understanding of the patient’s tumor and influence future patient care
The DecisionDx-UMSeq panel is now available to patients
undergoing DecisionDx-UM prognostic (GEP) testing and will be run from
the same tumor tissue biopsy. The results from the DecisionDx-UMSeq
panel, along with the prognostic DecisionDx-UM and DecisionDx-PRAME GEP
tests, will now provide a comprehensive genomic profile of a UM tumor
from a single biopsy.
The DecisionDx-UMSeq panel will evaluate DNA mutations in seven
genes known to be relevant to UM. The test will analyze hotspot
mutations in GNAQ, GNA11, PLCB4, CYSLTR2, SF3B1;
exons 1-2 of EIF1AX; and the coding exons of BAP1 gene.
Mutations in GNAQ, GNA11, PLCB4, and CYSLTR2 are initiating
events in the development of melanocytic tumors such as UM, while later
driver mutations in EIF1AX, SF3B1, and BAP1 may impact the
UM tumor’s ability to grow and metastasize. While no currently available
therapies target pathways affected by the gene mutations evaluated in
the DecisionDx-UMSeq panel, the genomic information may be useful
in the future to inform patient care as UM research and therapeutic
options evolve. Additional information about the genes in the
DecisionDx-UMSeq panel is available here
on the MyUvealMelanoma.com website.
How to order DecisionDx-UMSeq
The DecisionDx-UMSeq test can be ordered for patients who are
having DecisionDx-UM GEP testing. The DecisionDx-UMSeq requisition
form can be submitted concurrently with the DecisionDx-UM GEP test
or after receipt of the GEP results. DecisionDx-UMSeq is
currently validated for fine needle aspiration biopsy (FNAB) samples
that have not previously been exposed to radiation. The sequencing test
can be run from the same FNAB sample taken for the DecisionDx-UM GEP
The DecisionDx-UM test measures the gene expression profile (GEP), or
molecular signature, of an individual’s tumor and identifies with high
accuracy the likelihood of metastasis. The DecisionDx-UM test is
standard of care in the management of uveal melanoma in the majority of
ocular oncology practices. Since 2009, the American Joint Committee on
Cancer (AJCC; v7 and v8) has included GEP testing for identification of
Class 1 and 2 as a prognostic factor recommended for clinical care. The
AJCC is the only national organization that reviews uveal melanoma and
the DecisionDx-UM test is the only clinically available GEP test for use
in the U.S. The test has been validated in multiple prospective and
retrospective studies. It is estimated that nearly 7 in 10 diagnosed
patients in the U.S. receive DecisionDx-UM as part of their diagnostic
workup. More information about the test and disease can be found at www.MyUvealMelanoma.com.
About Castle Biosciences
Castle Biosciences is a molecular diagnostics company dedicated to
helping patients and their physicians make the best possible decisions
about their treatment and follow up care based on the individual
molecular signature of their tumor. The Company currently offers tests
for patients with cutaneous melanoma (DecisionDx®-Melanoma; www.SkinMelanoma.com)
and uveal melanoma (DecisionDx®-UM, DecisionDx®-PRAME
and DecisionDx®-UMSeq; www.MyUvealMelanoma.com),
with development programs in other underserved cancers. Castle
Biosciences is based in Friendswood, TX (Houston), and has laboratory
operations in Phoenix, AZ. More information can be found at www.CastleBiosciences.com.
DecisionDx-Melanoma, DecisionDx-UM, DecisionDx-PRAME and DecisionDx-UMSeq
are the trademarks of Castle Biosciences, Inc. Any other trademarks are
the property of their respective owners.
Castle Biosciences, Inc.
Derek Maetzold, President and CEO,
Source: Castle Biosciences, Inc.