No matter what your age, if you or a loved one live with or are at risk
for congenital, heritable, familial or rare conditions, you benefit from
access to a wide range of OU Health specialties that target rare and undiagnosed
diseases. Services include diagnostic evaluation, testing, education and
clinical services throughout your life. That means your OU Health genetics
team helps you or your loved ones make a smooth transition from newborn
and pediatric care to adult care.
Request an Appointment
Talk with an OU Health specialist in genetics and genetic counseling as
well as rare diagnosis.
Because genetic diseases make up a large portion of rare diseases, the
OU Health genetics team, working with our internal medicine, nephrology,
urology, neurology, cardiology, gastrointestinal, endocrinology and pediatric
teams, offers you consultation in person (inpatient, outpatient) or via
telemedicine for birth defects, genetic conditions and metabolic conditions,
as well as newborn screening. And with multiple onsite scientific laboratories
at OU Health, you can count on receiving accurate results that support
your personalized plan for care and treatment.
You or your loved ones may receive consultation, care and treatment from
OU Health genetics professionals for a variety of conditions, including
but not limited to:
Apicomplexan guanylate cyclase
Ataxia, including spinocerebellar ataxia 34
Bronchopulmonary dysplasia
Congenital eye abnormalities
Cystic fibrosis
Down syndrome
Fragile X
Hemophilia and other hereditary coagulopathies
Hereditary retinal degeneration
Hypophosphatasia
Hypoplastic left heart syndrome (HLHS)
Inborn errors of metabolism
Lysosomal enzyme replacement
Muscular dystrophy
Neurofibromatosis 1 and 2
Neuro-ichthyotic disorders
Phenylketonuria
Prader-Willi syndrome
Sickle cell anemia
Sjögren syndrome
Tourette syndrome
Turner syndrome
OU Health Resources for Genetics and Rare Diseases
At OU Health, you or your loved ones living with genetic conditions and
rare diseases gain access to many community-based education programs and
other types of information through the HRSA-funded Heartland Genetic Services
Network, pioneered by OU Health and one of seven Regional Genetics Networks
in the nation. You also benefit from OU Health participation in:
Oklahoma Birth Defects Registry, a national and local source for care and
research, and other national rare disease registries
Native American Research Center for Health (NARCH), a partnership with
several Native American nations in Oklahoma
Newborn Screening Translational Research Network that identifies, treats
and follows children with rare genetic conditions
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