Reproductive Genetics

Combining the selective capture capacity with our advanced bioinformatic software for the selection and prioritization of variants, we present a series of targeted studies, at a reduced cost, which can detect healthy carriers and the compatibility of future parents, can be used for molecular diagnosis of infertility and for the neonatal diagnosis of frequent hereditary diseases.

Our panels offer high quality results, which include

  • Classification of variants according to ACMG criteria
  • Verification of absence of known pathogenic variants
  • Reporting of unsequenced/covered regions
  • Possibility of revision of the variants (free of charge)
  • CNV analysis (additional)

Panels List

For those people who are planning to have children, or are a recent mother/father and have doubts about the possibility of the (future) child having a genetic disease, we developed the following panels to detect it and to be able to have valuable information.

Disclaimer, aviso de exención de responsabilidad y condiciones de uso

Bitgenia no proporciona consejo médico, diagnóstico o tratamiento. Los análisis e informes proporcionados por Bitgenia son únicamente con fines informativos y están sujetos a cambios. Los productos y servicios de Bitgenia son solo para su uso en la investigación y no se pueden usar en los procedimientos de diagnóstico. Por favor, tenga en cuenta que Bitgenia no ofrece ningún análisis genómico personal.

Design Estudio Demaro