NEW YORK – Dutch biotech firm MRC Holland said Wednesday that it has received CE marking under the EU's In Vitro Diagnostic Regulation for a molecular test that is used to screen newborns for spinal muscular atrophy (SMA).
The SALSA MC002 SMA Newborn Screen uses PCR amplification and melt curve analysis to determine the presence or absence of exon 7 in the SMN1 and SMN2 genes from a dried blood spot sample. Amsterdam-based MRC Holland said that the test is designed for use as a first-tier newborn genetic screening tool to aid the diagnosis of SMA, which is a genetic disorder that causes progressive muscle weakness.
The firm had received CE-IVD marking for the assay in 2018.
MRC Holland said in its instructions for use of the test that homozygous loss of the SMN1 gene is the most common cause of SMA, which is usually identified by the absence of exon 7-specific markers. The SALSA MC002 SMA Newborn Screen test results are intended for use in conjunction with other diagnostic findings including confirmatory testing, clinical genetic evaluation, and counseling.