Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling

Dorota Hoffman-Zacharska , Tomasz Mazurczak, Tomasz Zajkowski, Renata Tataj, Paulina Górka-Skoczylas, Katarzyna Połatyńska, Łukasz Kępczyński, Mariusz Stasiołek, Jerzy Bal; Journal of Applied Genetics
pp 1-7 DOI:10.1007/s13353-015-0331-4 First online: 23 February 2016

Routine FRDA molecular diagnostics is focused on (GAA)n expansion analysis. Additional tests are considered only in cases of heterozygous expansion carriers and an atypical clinical picture. Analyses of the parent’s carrier status, together with diagnostic tests, are performed in rare cases.

 Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling