…substitutions that change a positively charged Arginine of voltage sensor S4 segment into a lesser-charged amino acid (Human Gene Mutation Database). In general, the penetrance is lower in women (50%) than in men (90%) (Finsterer 2008…

…-to-female ratio of ASDs are 4:1.  ASDs are multifactorial, with estimates ranging between 50-90% having genetic components.  The clinical presentation of Intellectual Disabilities (IDs) can overlap with ASDs.  Our Testing Options…

…hormone) when present as a homotetramer (Ando, et al. 2013. PubMed ID: 23425518). The TTR gene is not essential for viability of tissue culture cells. Pathogenic variants in the TTR gene account for ~90% of hereditary amyloidosis cases…