Patients

Common reasons to see a geneticist

The science of human genetics is rapidly evolving and new genetic causes for diseases are discovered almost on a daily basis. We now know that pathogenic (or damaging) variants in our DNA either directly cause disease or at least play a role in the pathogenesis of many disorders. 

Genetics is becoming an integral part of any medical specialty and information about heredity can help in the diagnosis and development of personalized therapies.

It can be difficult to keep track of these rapid developments. We therefore want to give some guidance on which individuals may benefit from a genetic evaluation.

This list (see Clinicians) is meant to be a guide but is by no means comprehensive. if you are not sure when to seek a genetics advice or if you have additional questions, please contact us any time!

Services

Genetic Consultation (in-person or online) for
Individuals with a suspected genetic etiology and
  • Adoption or unknown family history
  • Adult complex disorders without diagnosis
  • Adverse medication effects
  • Alport syndrome
  • Alzheimer disease, dementias
  • Autism-spectrum disorders
  • Birth defects and pediatric syndromes
  • Blindness syndromes
  • Cancer predisposition; breast, other
  • Cardiomyopathies, arrhythmias, aneurysms
  • Connective tissue disorders, Marfan syndrome
  • Ehlers-Danlos syndrome
  • Hearing loss
  • Multiple fractures of unknown etiology
  • Other neurological disorders
  • Positive genetic test
  • Precision wellness
  • Positive family history of a rare condition
  • Prion disease (familial type)
  • Renal failure, proteinuria, hematuria
  • Second opinion for genetic cases
  • Seizures and epileptic encephalopathy
  • Skin disorders
  • Genetic testing
  • Whole genome sequencing (WGS)
  • Reanalysis of genome only
  • RNA sequencing for specific cases
  • Expanded newborn screening
  • Metabolic genetic testing
  • Polygenic risk score (PRS)
  • Methylation testing
  • Biological age
  • For more information and pricing go to genetic testing
  • Contact