NeoScreen SMA/TREC/KREC
The test designed for detection of homozygous deletion of exon 7 of the SMN1 gene and relative quantification of T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) for the purpose of screening for spinal muscular atrophy and primary immunodeficiencies. Category «Genetics»
Neonatal screening
Neonatal screening is an assay that allows for the detection of the most common genetic diseases that pose a threat to the life and health of a child. Performing neonatal screening enables physicians to identify the disease at a preclinical stage, initiate timely treatment, and prevent severe complications.
Until recently, it was nearly impossible to identify infants with primary immunodeficiencies before manifestation of the disease. Over the past decade, many countries have included determination of T-cell and B-cell immunodeficiencies’ universal markers for screening of immune system congenital pathologies—TREC (T-cell receptor excision circle) and KREC (kappa-deleting recombination excision circle)—in their healthcare system.
Primary immunodeficiencies (PIDs) are a genetically heterogenic group of congenital immune system pathologies which clinically manifest in recurrent infectious and autoimmune diseases as well as malignant neoplasms. Most primary immunodeficiencies manifest in infancy and early childhood.
TREC and KREC are extrachromosomal circular DNA structures formed during the rearrangement of the genes coding T- and B-cell receptors (TCR and BCR) of lymphocytes, and are the markers of naïve T- and B-cell populations. TREC and KREC molecules are stable and do not replicate during mitosis, which allows to use TREC as a marker of normal T-lymphocyte proliferation in thymus, and KREC as a marker of normal development of B-cellular component of immune system.
Regardless of the genetic defect, low TREC and KREC levels in newborn blood indicate T- and/or B-cell lymphopenia, which allows for usage of TREC and KREC level quantification for early diagnostics of immunodeficiencies. TREC level analysis is effective for verification of severe combined immunodeficiency (SCID), combined immune disorders without an identifiable molecular cause, and syndromic immunodeficiencies. KREC quantity determination is used to diagnose congenital agammaglobulinemias and other B-cell disorders.
Indications
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Screening of newborns
NeoScreen SMA/TREC/KREC
The NeoScreen SMA/TREC/KREC REAL-TIME PCR Detection Kit is designed for detection of homozygous deletion of exon 7 of the SMN1 gene and relative quantification of T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) in newborns’ biological material (whole blood, dried blood spots) for the purpose of screening for spinal muscular atrophy and primary immunodeficiencies by real-time PCR.
Biomaterial: whole peripheral blood, dried blood spots.
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