What Are The Different Types Of Genetic Testing?
Think of genetic testing like reading a book...
Genetic tests use your DNA to understand your health. DNA is found in every cell in your body, and it is made up of many letters. You can think of all the DNA in your body like words in a book.
Scientists use genetic tests to read your “DNA book” and look for changes in the letters of your DNA. Genetic testing is like using spellcheck on your DNA to find errors in the words.
Different genetic tests look for errors in the entire book, in important paragraphs, or in specific words. Changes can be one letter or larger portions of ‘text’. Some tests check that there are no extra or missing chapters.
What Are The Different Types Of Genetic Testing?
WHOLE-GENOME SEQUENCING (WGS)
looks at every word in every chapter of the DNA book. Reading all of your DNA, like reading a long book, takes time.
WHOLE-EXOME SEQUENCING (WES)
looks at the most important paragraphs in every chapter of the DNA book. WES is how most people with OCNDS are diagnosed.
PANEL TEST (MULTI-GENE TEST)
looks at the most important words from a few chapters. Each gene on the test is like one word. GeneDx’s “Autism Intellectual Disability (ID) Xpanded” panel is one example of a panel test that can look for gene changes associated with disorders that have autism or ID, like OCNDS.
CHROMOSOMAL MICROARRAY
looks for extra or missing chapters. This test does not look for specific misspelled words.