Lysosomal storage disease (LSD) is a collective term for diseases that occur when a large amount of undegraded material accumulates in the body due to genetic defects in lysosomal degrading enzymes.
Because each disorder has a different enzyme deficiency, measuring the activity of each enzyme in a blood sample enables doctors to screen for disease.
The SMCL Center will contract screening tests for five diseases of LSD: Fabry's disease, Pompe's disease, Gaucher's disease, mucopolysaccharidosis type I, and mucopolysaccharidosis type II.

TREC is circular DNA in which the part encoding the δ chain of the T cell receptor was cut off during the differentiation of T cells, and KREC is circular DNA in which the part encoding the constant part of the κ chain was cut off during the differentiation of B cells.
By measuring TREC and KREC, it has been reported that screening in the neonatal stage of primary immunodeficiencies such as severe combined immunodeficiency (SCID), typical X-linked agammaglobulinemia (XLA) of antibody production deficiency, and ataxia-telangiectasia (AT) associated with immunodeficiency is useful.

The SMN1 gene produces the SMN protein needed to maintain motor neuron function in the spinal cord.
Most cases of spinal muscular atrophy (SMA) are known to be caused by homozygous deletion of the SMN1 gene, and neonatal screening of SMA has been reported to be useful by measuring the SMN1 gene.