WALTHAM, Mass.--(BUSINESS WIRE)--
PerkinElmer,
Inc., a global leader focused on improving the health and safety of
people and the environment, announced today that its newborn screening
laboratory service, PerkinElmer Genetics, has launched a new panel to
screen for six Lysosomal Storage Disorders (LSDs) as an addition to its
current newborn testing
and diagnostics portfolio. The LSD Screening Panel tests for Krabbe
disease, Gaucher's disease, Niemann-Pick disease (Type A and Type B),
Pompe disease, Fabry disease and MPS I.
"The new LSD panel is the latest addition to our diagnostic and
screening services portfolio of more than 50 metabolic disorders. It
enhances the ability to detect six additional genetic disorders within
72 hours of specimen receipt, enabling earlier clinical intervention for
better neonatal health," said Jim Corbett, president, Diagnostics,
PerkinElmer. "While the primary goal is to provide information that
improves a newborn's quality of life and a definitive diagnosis for
parents, such tests also have the potential to lower palliative
healthcare costs for families and insurers, due to early diagnosis."
Each LSD results from different genetic mutations that translate into a
deficiency in enzyme activity. However, they all share a common
biochemical characteristic — all lysosomal disorders originate from an
abnormal accumulation of substances inside the lysosome.
The lysosome is responsible for converting cell waste into reusable
matter for cell function. Enzymes catalyze the breakdown of this
unwanted material, but in individuals with an LSD, the necessary enzyme
is missing or exists in an insufficient amount. This causes the cell
waste to accumulate in excess within the cell. Symptoms of LSDs can
include muscle damage, respiratory difficulties, bone abnormalities,
joint stiffness, burning sensations, enlarged liver or spleen, seizures
and loss of learned skills. When left untreated, severe deficiencies may
result in death.
The collective group of approximately 50 known LSDs has an incidence
rate between 1 out of 5,000 and 1 out of 10,000. Although there is no
known cure for LSDs, early detection allows doctors to plan for
treatment which involves addressing symptoms that may occur between
infancy and adulthood. Emerging therapies for LSDs include enzyme
replacement therapy (ERT) and hematopoietic stem cell transplantation
(HSCT) using bone marrow or umbilical
cord blood as a source of healthy stem cells.
LSD screening is available as stand-alone testing in the Lysosomal
Storage Disorders Screening Packet (LSD Only) or included with the StepOne®/
LSD Newborn Screening Packet.
Services offered by PerkinElmer Genetics are designed to detect
treatable diseases as early as possible before irreparable damage to
health occurs. PerkinElmer Genetics provides high quality newborn
screening services to save and improve the quality of children's lives
through early detection and intervention. PerkinElmer Genetics has
established and verified its tests' accuracy and precision as required
under CLIA '88. For more information about PerkinElmer Genetics, please
visit: www.perkinelmergenetics.com.
About PerkinElmer, Inc.
PerkinElmer, Inc. is a global leader focused on improving the health and
safety of people and the environment. The Company reported revenue of
approximately $1.7 billion in 2010, has about 6,200 employees serving
customers in more than 150 countries, and is a component of the S&P 500
Index. Additional information is available through 1‐877‐PKINYSE, or at www.perkinelmer.com.
Edelman (On behalf of PerkinElmer, Inc.)
Amanda L. Connolly,
404-832‐6785
amanda.connolly@edelman.com
Source: PerkinElmer, Inc.
News Provided by Acquire Media