05 Sep We advise you to have your baby tested at the same time as the Newborn Mass Screening test.
Information on Additional test for primary immunodeficiency and lysosomal diseases
The Newborn Mass Screening test is conducted by local governments across Japan. Even if a baby appears to be healthy, early detection and treatment of congenital diseases can minimize the onset of diseases and developmental disorders. In Hokkaido, this test is conducted for 26 different diseases.
In addition to these diseases, the Hokkaido Early Diagnosis Network for Rare Diseases has started an additional screening test for early detection of primary immunodeficiency diseases and lysosomal diseases (5 types).
These diseases are quite rare and have been difficult to diagnose and treat, but with the advancement of medicine, it has become possible to suppress the progression of symptoms by detecting and starting treatment early in life.
The cost of the test
The test is optional, so you will have to pay for it. Regarding the actual cost, please contact the medical
institution where you will give birth.
How to take the test and receive the results
This test uses the same blood that is drawn for the Newborn Mass Screening test, so there is no need for
a new blood sample from the baby. Please apply to your maternity medical institution, by filling out the
additional test application form and consent form enclosed in the test set. Read more
English Leaflet is available.
Hokkaido Early Diagnosis Network for Rare Diseases
Testing organization: Hokkaido Pharmaceutical Association Public Health Examination Center
Diagnosis and Treatment Organization:
Department of Pediatrics, Hokkaido University Graduate School of Medicine
National Hospital Organization Hokkaido Medical Center
Department of Pediatrics, Asahikawa Medica