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MC002 SMA Newborn Screen: study finds 100% sensitivity & specificity on DBS cards of SMA patients

May 03, 2019

MRC Holland recently launched SALSA® MC002 SMA Newborn Screen, an affordable tool to perform neonatal population screening for Spinal Muscular Atrophy (SMA). The MC002 assay was developed in collaboration with Dutch neonatal screening lab Isala. A clinical performance study by Isala and two other labs using MC002 SMA Newborn Screen on anonymised dried blood spot (DBS) cards of 47 SMA patients and 375 controls found a 100% diagnostic sensitivity and specificity. MC002 was able to detect the absence of the SMN1 exon 7 DNA sequence (which plays a pivotal role in SMA etiology), thereby reliably discriminating SMN1 from its paralog gene SMN2. In addition, the assay did not detect asymptomatic carriers - an added advantage in newborn screening. The MC002 test’s concordance with the second-tier ‘golden standard’ P021 SMA MLPA test was 100%. The authors concluded "the MC002 test showed the feasibility and accuracy of SMA screening in a neonatal screening program".

Read the original article here, or read more about MC002 SMA Newborn Screen here. Interested in a free trial kit? Contact info@mrcholland.com.

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