Benefits of genetic testing

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 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)

Genetic services

Genetic services locations

Related links

For professionals