Genetic studies by Sanger

Familial Genetic study of a known mutation by Sanger, study of one/two/three mutation/s in one gene (Code 20010, 20020, 20030)

Our genetic services include the study of relatives of a probando (or index case) to which a pathogen mutation has previously been found, in order to determine if the relatives have this mutation. These studies are performed using Sanger-specific sequencing of the mutated exon of the gene previously found to be responsible for the disease in the proband.