Screening for Gamete donors

HERES GEN It contains the information corresponding to genotyping (point mutations) by means of NGS.

Gene panel of common mutation screening of  ≥34 recessive diseases.

pdf List of recessive diseases

Gene panel of common mutation screening  of + 300 recessive diseases.

pdf List of diseases studied

HERES SEQ It contains the complete information of the sequencing of the gene by means of NGS.

Gene panel of complete sequencing  by means NGS of + 300 recessive diseases.

pdf List of diseases studied

For more information, please visit: www.fullgenomics.es

Personalized genetic testing

Genetic studies of Cystic Fibrosis, Fragile X, Spinal Muscular Atrophy, β Thalassemia, etc.

  • Screening for Cystic Fibrosis Mutations (51 mutations + PoliT)
  • Study of the ΔF508 mutation in CFRT
  • Pre-mutation Fragile X study
  • Study of Spinal Muscular Atrophy
  • Screening for the β Thalassemia mutations
  • Screening for a-Thalassemia mutations
  • Mutation Study of Familial Mediterranean Fever
  • Sickle Cell Anaemia: p.Glu6Val mutation in gen HBB
  • Screening for mutations Tay-Sachs disease
  • Screening for mutations Canavan disease