Adult Genetic Services

Adult Genetic Services

Adult Genetic Evaluations

Medical genetics evaluations are provided to adults with concerns regarding various genetic conditions, including connective tissue disorders, neurological conditions, metabolic disorders, and lysosomal storage disorders.

Individuals who can benefit from adult genetics services include those with:

  • A personal or family history of a connective tissue disorder, such as Marfan syndrome.
  • A diagnosis of or concerns regarding a possible metabolic condition.
  • Other known syndromes such as NF (Neurofibromatosis), TSC (Tuberous sclerosis complex), etc.

What to expect during an adult genetic services appointment

  • A photograph may be taken of you
  • Discussion of the reason for your referral
  • Extended discussion of your medical history
  • A detailed family history including information about relatives with learning problems, mental retardation, birth defects and recurrent miscarriages, as well as the family’s ethnic background
  • A complete medical exam by geneticist, (a physician specifically trained in diagnosing genetic conditions), depending on reason for referral
  • Information regarding prognosis, possible treatment and other recommendations; not everyone will receive a diagnosis on their first visit
  • Discussion of the inheritance of the condition and the chance that a child or other family member could be affected (if a diagnosis is made)
  • Discussion of the impact this condition has or may have o the individual or family
  • Provision of referrals and resource information such as support groups or community organizations, patient literature or addresses of websites
  • Followed up by letter, phone call, and regular visits to the clinic

Adult Genetic Counseling

Genetic counseling is a communication process by which personal genetic risk information is translated into practical information for families. Genetic counselors are able to assist individuals and families by helping people to understand information about birth defects or genetic disorders.  This includes explaining patterns of inheritance, recurrence risks, natural history of diseases, and genetic testing options.  They help families cope with emotional issues related to a diagnosis or testing options, and help them make decisions with which they are comfortable, based on their personal, ethical and religious standards. They also connect individuals and families with appropriate resources, such as support groups or specific types of medical clinics, locally and nationally.

Our services include:

Prenatal and Preconception Genetic Counseling

Cancer Genetic Counseling

Other Adult Genetic Counseling Services