Types of DNA Changes

Types of DNA Changes

Your genome sequence is different from everyone else's, unless you have an identical twin. These differences, or variants, arise from changes, or mutations, in the DNA. Most of the variants in your genome are inherited, though a small number of new ones arise in each generation. Some DNA changes affect the specific instructions in a gene. Medical and research doctors' ability to analyze and interpret genome information is still quite limited. It is not always possible to predict whether a DNA change is important. It may be important to reanalyze the data in the future as new discoveries are made.

There are multiple types of DNA changes, including:

  • The substitution of one single DNA base letter with another (Substitution)
  • The addition or removal of one or more DNA base letters (Insertion/Deletion)
  • The inversion of two or more DNA base letters (Inversion)
  • The duplication of one or more DNA base letters (Duplication)
  • The movement of one or more DNA bases from one location to another in the genome (Translocation)

When a particular substitution change occurs in more than 1% of the population, it is considered a common variant. These are also referred to as Single Nucleotide Polymorphisms (SNPs).

There are also sections of DNA bases in our genomes that are commonly copied many times over. The number of copies may vary from person to person. These changes are called Copy Number Variations (CNVs). Again, these may, or may not, be important.

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TruGenome Clinical Sequencing Services is performed in the Illumina CLIA (Clinical Laboratory Improvements Amendment)-certified and CAP (College of American Pathologists)-accredited Clinical Services Laboratory. The TruGenome Sequence information is generated by licensed personnel using an analytically validated process. Consistent with Laboratory Developed Tests, it has not been cleared or approved by the U.S. Food and Drug Administration.

This genome sequence information can be analyzed to potentially aid physicians in the evaluation of a broad range of health conditions or physiological traits. Patients will not receive medical results, or a diagnosis, or a recommendation for treatment from Illumina. Any results arising from the analysis of genome sequence information that might be deemed medically actionable should be confirmed using alternative testing. If any questions or concerns arise about what is learned through the genome sequence information, patients should contact their physician or a genetic counselor. Currently Illumina does not accept orders for TruGenome Clinical Sequencing Services from New York.