Shimadzu subsidiary launches screening tests for newborn

Shimadzu Corporation announced that its subsidiary Shimadzu Diagnostics will begin selling the TKSneoFinder  detection reagent set, a PCR reagent kit for newborn screening tests.  In conjunction with the sales of the kit, Shimadzu Techno-Research, a subsidiary of Shimadzu Corporation, plans to launch a contract newborn screening testing business within FY2023.

TKSneoFinder is a PCR reagent kit that uses blood samples collected from the heels of infants to evaluate the possibility of (1) severe combined immunodeficiency (SCID), (2) B-cell deficiency disorder (BCD), and (3) spinal muscular atrophy (SMA).

(1) For SCID, the kit examines gene expression of T-cell Receptor Excision Circles (TREC), a marker of T-cell neoplasia. If TREC expression is low, SCID may be present.

(2) For BCD, we will examine gene expression of Kappa-deleting Recombination Excision Circles (KREC), which is a marker of B cell neoplasia. If the expression of KREC is low, BCD is suspected.

(3) For SMA, we examine for SMN1 gene deletion, which is important for the maintenance of spinal motor neuron function; if the SMN1 gene is homozygous for deletion, SMA is highly likely.

The TKSneoFinder consists of a 96-well plate, reaction reagent coated tubes, plate seals, and an instruction manual. To use the kit, DNA must be extracted from a blood sample collected from the heel of an infant as a preliminary preparation. After that, the following steps are required: (1) add 525 μL of ultrapure water to the reaction reagent coated tube to dissolve, (2) add 15 μL of DNA extract and 5 μL of reaction reagent to each well of a 96-well plate, (3) attach a plate seal and mix the DNA extract and reaction reagent, and (4) perform measurement using a real-time PCR (4) measurement using a real-time PCR device – the test results are obtained.

The TKSneoFinder can analyze the gene expression levels of TREC, KREC, and SMN1 for 92 individuals per kit, priced at 165,600 yen per kit.

In Japan, newborn screening tests do not require pharmaceutical approval, unlike conventional disease tests. Therefore, TKSneoFinder has not obtained approval as a diagnostic agent. However, Shimadzu will consider whether to obtain approval if necessary in the future.

The unique feature of the kit is that the reagents are solid-phased in a 96-well plate. Normally, enzymes and other reagents need to be frozen, but because they are solid-phased, they can be stored at refrigerated temperatures (2-8°C), according to the company. Since the PCR reagents and calibration standards are solid-phase, they can be used simply by dissolving them at the time of testing. Since there is no need for frozen storage, handling will be easier.

In Japan, newborn screening tests for SCID, BCD, and SMA are currently being conducted by some local governments. In addition, reagent kits are available from Sekisui Medical, PerkinElmer, and Thermo Fisher Scientific. Shimadzu will approach mainly local governments that have not yet implemented the tests to promote mass screening tests for SCID, BCD, and SMA in Japan,

Shimadzu subsidiary launches screening tests for newborn
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