June 1, 2018

In the Genes – 4 Genetic Tests and What to Know about Them

Genetic tests can help diagnose disorders, find what medications would be most effective for individuals, determine if mutations for certain diseases might be passed on to children, and much more. The Mission Fullerton Genetics Laboratory offers many different kinds of genetic tests. Here are four of them:

Chromosome Analysis

Humans have 23 pairs of chromosomes. Chromosome analysis is studied using live, dividing cells to determine if an abnormal number of chromosomes is present or whether chromosomes have been inappropriately rearranged.

At the Fullerton Genetics Laboratory, cells are cultured and stained so that the patterns can be analyzed in prenatal, blood and cancer samples.

Chromosomal Microarray Analysis

Chromosomal microarray analysis (CMA) allows the lab to look at the entire genetic makeup of a person in order to find missing or extra pieces of chromosomes.

The CMA test at the Fullerton Genetics Laboratory is a first-tier test for intellectual disability, multiple congenital anomalies and autism-spectrum disorders.

Fragile X

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Males with FXS exhibit mild to severe intellectual disability, often associated with autism-spectrum disorders, attention-deficit/hyperactivity disorder, speech/language delay, anxiety and other characteristic behaviors. Approximately 50 percent of females with a mutation are affected, and some have more significant cognitive, behavioral, and physical features of FXS similar to those in males, while others have only subtle learning disabilities.

The FXS test at the Fullerton Genetics Laboratory is designed to detect the expansion mutations that are the primary cause of this genetic disorder.

Cystic Fibrosis

Cystic fibrosis (CF) is caused by the presence of two mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that are located on opposite chromosomes. Testing for CF mutations is recommended on a diagnostic basis for individuals with symptoms of classic CF as well as on a carrier screening basis for expectant individuals and those planning a pregnancy.

The CF test at the Fullerton Genetics Laboratory is designed to detect the most common mutations currently recommended by the American College of Medical Genetics and the American College of Obstetricians and Gynecologists, plus some of the world’s most common and North American-prevalent mutations.

Monica Basehore, PhD, FACMG, is the Director of Mission Fullerton Genetics Laboratory.

To learn more about the services at Mission Fullerton Genetics Center, visit missionhealth.org/genetics.