PhenomeGene — Human Disease Gene Website SeriesLAMB2

Molecular characteristics

In general, every child or person with Congential nephrotic syndrome or Pierson syndrome due to two LAMB2mutations has different mutations from other people. However they may have two copies of the same mutation. The gold standard for the diagnosis of LAMB2-nephropathy is genetic testing because this not only confirms the diagnosis but because the mutation itself may help predict the likely disease course, that is, whether kidney disease progression will be fast or slow.