"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
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
Edelman (On behalf of PerkinElmer, Inc.)
Source: PerkinElmer, Inc.
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