The following table presents the list of thousands of gene mutations considered, to date, to be certainly responsible for syndromic disorders listed in the first column.

The diagnostic validity, limitations and applicability in prenatal clinic of  NGPD, resides exclusively in the correct targeting” of the diagnostic procedure used.

This means that:

  • The list of mutations responsible for genetic diseases sought must be determined with absolute accuracy does not include, or even the exclude, all genetic variants for which there is no certainty of pathogenic correlation, for which there is no univocal mea
  • ning;
  • The targeting excludes all the gene mutations for which there is no ethical justification of research (suscettibility genes, polymorphisms, etc.);
  • The targeting is a dynamic process that changes according to the evolution and genetic knowledge and thus reflects the status of established” Art;
  • The targeting can ‘change from country to country depending on geographic interest for some mutations. It can vary from lab to lab into account the technology used. May also vary depending on legal rules and ethical beliefs in the place where you perform the exam.

As well specified in the informed consents are identified exclusively genetic abnormalities resulting from mutations today held liable syndromes listed in the first column.

It is thousands of mutations of pathological significance fail. It should be clarified and reiterated that any new anomalies not yet known by medical science or in the process of study, or for which there is no certainty of a validated clinical correlation specific, known, described, and categorized, there will be diagnosed in advance for not give rise to doubts and suspicions unfounded clinical.

The list of changes is not ‘ static but change constantly depending on the evolution of the art and cultural evolution .

Click here to download pdf the complete list to date of approximately 12,000 mutations are looking for.

List disease and mutations rev 11-28-2014