Clinicians
Adults
- Family history of a rare condition
- Cardiac disease (see cardiogenetics)
- Early onset neurologic diseases (stroke, dementia, Parkinson’s)
- Vision loss, macular degeneration, retinal disease
- Joint pain, hypermobility, frequent dislocations, fractures
- Connective tissue disorders (Ehlers-Danlos syndrome, Marfan Syndrome)
- Hereditary hemorrhagic telangiectasia
- Pulmonary diseases: idiopathic pulmonary fibrosis, arterial hypertension
- Renal diseases: Proteinuria, chronic renal failure, polycystic kidney disease
- Liver diseases: Wilson’s disease, unknown etiology liver failure
- Skin conditions, unusual rash or eczema
- Maturity-onset diabetes of the young (MODY)
- Hypoglycemia and hyperinsulinemia
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
