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    Newborn Screening Unit
    Genetic Services
    PO Box 149347, MC-1918
    Austin, Texas 78714-9347

    Fax: 512-776-7593
    Toll-free: 800-252-8023


Adults with Genetic Disorders

What is the adult genetics clinic?

An adult genetics clinic focuses on the care of patients over 18 years of age.  The typical function of these clinics includes:  diagnostic evaluation of conditions with a suspected genetic basis in adults; providing care for adults with established genetic conditions; genetic counseling and testing services for people with a known family history of a genetic condition; preconception counseling; and testing for people considering pregnancy who may be at risk for having a child with a genetic condition.

Who should be referred to an adult genetic clinic?

Many genetic disorders are identified and diagnosed at birth or during childhood.  These people, once they reach adulthood, need to be switch from pediatric care to adult care, and so are referred to an adult genetics clinic for management of their genetic condition.

Examples of these types of genetic disorders include:

Inborn Errors of Metabolism

  • Phenylketonurea (PKU)
  • Galactosemia
  • Urea Cycle Disorders
  • Glycogen Storage Diseases
  • Lysosomal Storage Disorders

Chromosome Disorders

  • Down Syndrome
  • Turner Syndrome
  • Klinefelter Syndrome

Skeletal Dysplasias


Prader-Willi Syndrome

Fragile X Syndrome

Other Heritable Conditions and Genetic Syndromes

Other types of genetic disorders may manifest themselves after childhood and adolescence.  These are known as adult onset genetic disorders and require a genetics evaluation for diagnosis and management.

Examples of adult onset genetic disorders include:

Heritable Disorders of Connective Tissue

  • Marfan Syndrome and other Aortic Aneurysm Syndromes
  • Ehlers Danlos Syndrome (EDS)

Neurogenetic Disorders

  • Charcot-Marie-Tooth Disease
  • Huntington Disease
  • Myotonic Dystrophy
  • Spinocerebellar Ataxia

Hereditary Heart Diseases

  • Hypertrophic Cardiomyopathy
  • Hereditary Long-QT Syndrome

Metabolic Disorders

  • Hemochromatosis (Iron Overload)
  • Porphyria

Other Adult-Onset Heritable Disorders

Adult genetics clinics are primarily based on patients being referred by a physician.  Medical records should be sent from the primary care physician and/or referring sub specialist prior to the patient’s appointment.  During the genetics visit, the patient may meet with both a genetic counselor and a medical geneticist.  For genetics patients requiring special diets, a dietician will be available as well. The physician will obtain a detailed family history, a physical exam, and laboratory testing as needed.  Genetic testing will be offered only if available and appropriate for the patient.  It is the responsibility of the patient to check with his or her insurance company regarding payment for genetics services.

Information on specific genetic syndromes.

Resources for Patients about Genetic Disorder

National Organization for Rare Disorders (NORD) - Dedicated to helping people with rare diseases and assisting the organizations that serve them.  NORD is committed to the identification, treatment and cure of rare disorders through programs of education, advocacy, research and service.

FORCE- Facing our Risk of Cancer Empowered - A nonprofit organization for women whose family history and genetic status puts them at high risk for breast and ovarian cancer. Lists local support group in Texas for patients with hereditary breast and ovarian cancer.

Genetic Alliance - An international organization of families, professionals and genetic support organizations that work to improve the quality of life for individuals dealing with genetic conditions. Offers disease specific information and resources as well as a “helpline” with direct contact with a genetic counselor for more information or to discuss questions and concerns.

March of Dimes - Provides information on birth defects, genetic disorders and multiple pregnancy issues.  Fact sheets on specific genetic conditions are available.

GeneTests - A publicly funded site that provides medical genetic information resources for physicians, other health care providers and researchers.  There are comprehensive reviews on specific genetic syndromes.

Genetics Home Reference - National Institute of Health - Your Guide to Understanding Genetic Conditions.  A comprehensive review of most genetic conditions categorized by organ system, genes and chromosomes.  Consumer friendly information on the effects of genetic variation.

National Society of Genetic Counselors - Find a genetic counselor anywhere in the United States. 

Ask the Geneticist - Ask a medical geneticist questions about a genetic concept, genetic condition, treatment, research and testing.  Answers are posted on the website.

External links to other sites are intended to be informational and do not have the endorsement of the Texas Department of State Health Services. These sites may not be accessible to persons with visual impairment.


Last updated February 26, 2021