CARING Clinic - Resources

Patient Resources:

Autism Speaks
https://www.autismspeaks.org

Epilepsy Foundation
endepilepsy.org

Dup15q Alliance
www.dup15q.org

National Organization for Rare Disorders
https://rarediseases.org

UCLA Health Library
This is a handy resource to search medical terms that may not be familiar with you.
healthinfo.uclahealth.org

Relevant Terminology:

Genetic testing can help identify genetic diseases or genetic variants and often better inform treatment outcomes. There are many kinds of tests used for various reasons. The type of genetic testing relevant to the CARING clinic is known as diagnostic genetic testing which is used to find or confirm the diagnosis of a genetic condition. Test results may help determine the course of a disease and the choice of treatment. Specific types of tests often ordered in CARING are as follows:

  • Chromosomal microanalysis (CMA) - A DNA-based method of genetic analysis, which can identify clinically significant chromosome abnomalities, such as deletions and duplications of whole chromosomes, portions of chromosomes, and specific locations where copy number variants (CNVs) are associated with particular genetic diseases.
  • Whole/Trio Exome Sequencing (WES) - A technique for sequencing all of the expressed genes in a genome (known as the exome).
  • Fragile X - Tests specifically for Fragile X syndrome
  • Karyotyping - A test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells, it can help identify genetic problems as the cause of a disorder or disease.