We offer first-tier screening service for newborn babies regarding 10 lysosomal storage disorders (LSDs) by simultaneously measuring their enzyme activities, followed by second-tier testing on Krabbe disease by measurling psychosine, its biomarker.
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This page is intended for healthcare professionals and municipal authorities as well as regional screening laboratories which are considering the introduction of these services. Please note that we do not accept inquiries from private individuals.
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These services are also intended for clients in Japan. However, please feel free to contact us if you are curious about our expanded newborn screening service.
Screening Menu and Target Disorders
First-tier screening for 10 lysosomal storage disorders (LSDs)
Second-tier testing on Krabbe disease
Workflow
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1.
A small amount of blood is taken from the heel of a newborn baby 4 to 6 days old, applied to filter paper and dried. These dried blood spot (DBS) specimens are collected, anonymized to protect personal information at regional screening laboratories.
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2.
When the speciments are sent to our testing facility by mail, we perform the screening, followed by the testing, and report the results to each regional screening laboratory.
Turnaround time (from our receipt of DBS)
- First-tier screening: 10 business days
- Second-tier testing: 5 business days
Testing Facility
Medical Laboratory “Yume-saki Lab” of Sumika Chemical Analysis Service, Ltd.
Terms of Use
- Institutions and organizations, including healthcare professionals, municipal authorities and regional screening laboratories which are considering the introduction of our expanded newborn screening service, must enter into a service agreement with us.
- For details on terms and implementation, please contact us.
