PGD ONE™ – Diagnosis of monogenic diseases

So-called monogenic or single gene diseases are caused by changes or mutations in specified single genes. The can be passed on to children by their parents. The risk of disease occurring in a child is determined depending of the inheritance pattern of this disease: autosomal dominant, autosomal recessive or X-linked (recessive and dominant). The highest risk exists in patients with the related positive genetic history and carriers of mutations who themselves may not present any symptoms.Genetic diseases are the group of disorders caused by abnormalities in genetic information included in genes which carry encoded instructions vital for the proper body structure and functions.

In the case of monogenic diseases, PGD ONE diagnostics involves performing the examination of material collected from an embryo for the presence of mutations carried by one or both parents. Additionally, for the purpose of increasing the credibility of results, at the same it is examined how the partners’ chromosomes with detected mutations are distributed among individual embryos.

Application of the state-of-the-art PGD ONE method allows diagnosing all monogenic diseases. Every diagnostic testing is prepared on a case-by-case basis.

Where do gene mutations come from?

In most cases mutation is random. Its occurrence and related symptoms do not depend on us. Mutations within genes may also be present in cells responsible for the production of gametes – eggs and sperm. A genetic disease may be inherited from one or both parents. Sometimes mutation doesn’t manifest itself and a given individual is only its carrier. This is the case in autosomal recessive diseases and – depending on gender – in X-linked recessive diseases. Persons who only carry a mutation are typically healthy. The problem appears if they plan children with another carrier of a mutation in the same gene. Such couple is at high risk of having a child with genetic disease resulting from inheriting both mutations from both parents.

At present INVICTA Genetic Laboratory diagnoses all monogenic diseases with known genetic background!

So far we have diagnosed the following disorders:

  • Cystic fibrosis (CF)
  • Duchenne and Becker types of muscular dystrophy
  • X-chromosome related diseases
  • COX Syndrome
  • Mutations in the RAG2 gene
  • Huntington’s disease
  • Spinal Cerebral Atrophy (SCA)
  • Tuberous sclerosis
  • Congenital deafness
  • HLA (Human Leukocyte Antigen with a mutation in the gene SAP