Our CE IVD Products

SPOT-itTM
TREC, KREC & SMN1
Screening Kit

SPOT-it™ TREC, KREC & SMN1 Screening Kit is an in vitro diagnostic kit intended for simultaneous screening for severe combined immunodeficiency (SCID), agammaglobulinemia (XLA) and Spinal Muscular Atrophy (SMA) in newborns.

The test aids in identifying newborns who potentially suffer from SCID caused by a lack of mature T- or T and B-lymphocytes; XLA caused by a selective lack of mature B-lymphocytes; or SMA caused by homozygous exon 7 deletion in the SMN1 gene.

Multiplex Screening

Newborn screening for SCID, SMA, and XLA from a single blood spot punch.

The SPOT-it™ TREC, KREC & SMN1 Screening kit detects four markers: T cell receptor circles (TRECs), survival motor neuron 1 (SMN1) gene, kappa-deleting recombination excision circles (KRECs), and Beta-actin (ACTB).

Semi-quantification of TREC is used to identify potential cases of SCID, as TRECs are circular DNA fragments formed at the early stages of T-lymphocytes (T-cells) maturation — a critical process for immune system development. Thus, low or undetectable levels of TREC in newborn’s blood are highly indicative of SCID.

Homozygous deletion of exon 7 in the SMN1 gene is found in approximately 95% of SMA patients, and it is used as a marker for SMA. SMN1 encodes for the survival motor neuron (SMN) protein. Insufficient levels of SMN protein can result in motor neuron loss and severe physical disability.

KRECs, produced during B-cell maturation, provide insights into B-cell levels. A lack of KRECs alongside low TREC levels suggests SCID affecting both T- and B-cells, while a low KREC level with normal TREC may indicate XLA.

ACTB gene, coding for Beta-actin protein, functions as an internal control in the assay, ensuring sample quality and accuracy of results.

Diagnosis shall be made by healthcare professionals through confirmatory testing, according to local requirements or recommendations.

Quick Assay
Information

SPOT-it™
TREC, KREC & SMN1
Screening Kits

Reliable and accessible in vitro diagnostic assays manufactured in Sweden

01

qPCR test method

Real-time quantitative polymerase chain reaction (qPCR) assay principle.

02

Quick procedure

From Dried Blood Spot (DBS) to screening result within 3 hours, with no manual samples transfer needed.

03

Easy handling

Liquid transfer through innovative plate-stacking method and ready-to-use, pre-filled reagent plates.

04

No need for separate clean room

The use of ready-to-use, pre-filled reagent plates removes the need for a separate clean room for MasterMix preparation.

05

Trusted kits

Used in national screening programs in multiple European countries since 2017.

06

CE-marked

Certified for in vitro diagnostic use in Europe.

Discover how the assay works

The test is intended for use by laboratory professionals to aid in identifying newborns, who potentially suffer from SCID, SMA or XLA
01

Sample distribution

Distribute a 3.2 mm diameter punch from each Dried Blood Spot (DBS) sample into the SPOT-it™ Filter Plate.

02

Rinse Dried Blood Spots

Rinse and rehydrate the samples to remove hemoglobin and other impurities.

03

Elution of the DNA

Transfer rinsed punches into the pre-filled Elution Plate using centrifugation and plate-stacking technology. DNA is then eluted by the heating process.

04

qPCR Amplification

Transfer the eluted DNA to the pre-filled qPCR Plate using centrifugation and plate-stacking technology; and launch the qPCR run.

05

Result Interpretation

Understand results rapidly by visualizing the data, and verify control parameters.

Simultaneous screening of newborns from a single blood spot punch identifies SCID, SMA, and XLA, ensuring an efficient screening for early detection and timely intervention.
Erna Domsgen, PhD

CEO at ImmunoIVD

Product details

Product name:

SPOT-it TREC, KREC & SMN1 Screening Kit

Description:

Newborn screening for SCID, SMA & XLA

Product Code Format Samples per kit
4-2020-TKS 4 x 96-well plate 324
4-2020-TKS 12 x 96-well plate 972

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