Whether making a referral as a health care provider, or doing research for yourself or a loved one, genetic testing may provide the answers you are seeking.
Genetic testing looks for changes in genetic material or genes to rule out possible genetic conditions or help determine a person’s chance of developing or passing on a genetic disorder.
The process involves analyzing or reading a gene to identify mutations associated with a specific risk.
Atlantic Health System genetic counselors discuss genetic testing options with patients, and then can facilitate testing through outside commercial laboratories, if recommended. Genetic testing is often done with a blood or saliva sample.
When to Get a Genetics Evaluation
A genetics evaluation is often considered for children or adults with the presentation or apparent risk of the following:
- Birth defects
- Autism or developmental delay
- Seizures
- Early-onset hearing loss or vision loss
- Growth issues
- Infant death/family history of infant death
- Family history of a known genetic disorder
- Dysmorphic features
- Neuromuscular conditions or complaints
- Developmental regression
Why Genetic Testing
- Providing a clear diagnosis for patient
- Provides guidance on targeted medical care
- Possible prevention of certain pathologies
- Determine risk of a disorder to current or future pregnancies
Types of Genetics Tests
- Karyotype
- Chromosome microarray
- Single gene analysis
- Methylation studies
- Metabolic studies
- Multi-gene panel
- Whole exome sequencing (WES)
- Whole genome sequencing (WGS)