The capacity of LRS to phase autosomal recessive or de novo variants or identify both an STR expansion and sequence variant in a compound heterozygous state (as can occur in RFC1‐CANVAS/spectrum disorder and Friedreich ataxia [38, 39]), is especially valuable for late‐onset conditions, where availability of both parents for testing may be a barrier to diagnosis. The gene discussed is RFC1; the disease is Friedreich ataxia.