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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 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)