Revolutionizing ALS Diagnostics: Blood Biomarkers and Genetic Insights

Combining serum neurofilament light chain (sNfL) with cardiac troponin T (cTnT) improves early diagnostic accuracy for amyotrophic lateral sclerosis (ALS), narrowing diagnostic uncertainty and accelerating diagnostic triage.

A recent cohort study found that the dual-biomarker panel strengthens differentiation of ALS from clinical mimics and can enable earlier targeted evaluation and counseling.

The report notes an ALS-specific cTnT cutoff of 8.35 ng/L—below typical cardiology thresholds—that the investigators reported increased sensitivity.

Genetic data add important nuance: parallel analyses show overlapping variants across motor neuron disease phenotypes, blurring strict categorical boundaries. Genetic heterogeneity can complicate phenotype-based diagnoses, so broader genetic panels may be informative when presentations are atypical or a family history is present—helping to contextualize biomarker results without over-interpreting single variants.

Routine clinical adoption will require assay standardization, lab-specific cutoff validation, control of preanalytical variability, and clinician education about the lower ALS-specific cTnT threshold compared with cardiology norms. Reimbursement, test availability, and external validation in diverse populations are also necessary before widespread integration into diagnostic pathways.