ResourceClinical Diagnostics
A novel reference standard for spinal muscular atrophy detection by non-invasive prenatal testing
3 Aug 2026Spinal muscular atrophy (SMA) affects approximately 1 in 10,000 births, and reference materials for non-invasive prenatal testing (NIPT) development have been scarce and hard to source. In this scientific poster, LGC Diagnostics & Genomics - SeraCare Clinical Diagnostics describes a patient derived cfDNA reference standard from an SMA-affected pregnancy, demonstrating that its platform can recapitulate the subtle molecular features needed to support early, confident SMA detection.
Resource details:
Resource type: Scientific poster
Page count: 1
Read time: 5 mins
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Clinical ChemistryBiochemistry (or clinical chemistry) involves the analysis of bodily fluids using chemical tests. Techniques used include HPLC, chromatography, spectroscopy, mass spectrometry, immunochemical, electrophoresis, turbidometric / spectrophotometric assay, MRI and ISE analysis. Tests are often carried out on plasma or serum but urine (urinalysis) and fecal specimens are also processed.Spinal Muscular AtrophyPrenatal Testing