i.Mune NEO is a quantitative in vitro diagnostic test to determine the percentages of lymphocyte subsets in newborn capillary whole blood specimens collected and dried on filter paper.
The test uses a real-time polymerase chain reaction (PCR) for the detection of immune cell type specific demethylated genomic target regions associated with the following immune cell types::
The i.Mune NEO [CE] test consists of the following kits:
Epigenetic quantification of CD3+ T lymphocytes for second-tier testing after conspicuous SCID (Severe Combined Immunodeficiency) screening findings (Blom et al., 2021)1)
Second tier testing using epigenetic immune cell quantification can reduce the number of non-actionable secondary findings and false-positive referrals in newborn screening for SCID.
Identification of Severe Combined Immunodeficiency (SCID) and X-linked Agammaglobulinemia (XLA) in dried blood spot (DBS) samples from newborns (Baron et al., 2018)2)
A cohort of 250 apparently healthy newborns and 24 confirmed SCID and XLA cases was analyzed using epigenetic immune cell quantification of T-, B- and NK cells in dried blood spot samples2)
23 out of 24 confirmed SCID or XLA cases were correctly identified using the epigenetic immune cell quantification method.
Using combined TREC/KREC Analysis, 22 out of 24 cases were correctly identified2)
**These applications are currently being investigated in several studies