Genetics and Metabolism: Preparing for Your Visit

Pediatric Genetics and Metabolism

Genetics and Metabolism: Preparing for Your Visit

Genetics and metabolism specialists at UW Health help individuals and their families to understand and cope with genetic conditions, birth defects and other disorders.
Use the information below to prepare for your or your child's appointment.
Prior to Your Appointment 

Our clinic coordinators will ask you to provide the following information:
  • Patient's name, sex, date of birth
  • For children, name(s) and address of patient's biological, foster and/or adoptive parent(s)
  • Addresses and phone numbers of other health care providers that you or your child have seen
  • The reason for the appointment
  • Referring physician name and address
  • Name of health insurance plan
  • Depending upon your insurance plan, you may need a referral from your or your child's primary doctor or specialist

Our clinic coordinators and other members of our care team will help determine which records are important to request. These may include:

  • Medical records from non-UW physicians
  • Test results (X-rays, laboratory reports, CT scans, hearing tests, etc.)
  • Therapy evaluations (physical therapy, occupational therapy and speech/language therapy)
  • School records (IEP and 504 plans, developmental evaluations, etc.)

Family history, medical history and developmental history are essential components of any genetics appointment. This may be collected prior to or during the clinic visit. The types of questions that are asked may include:

  • Personal health history about you or your child (date and reason for surgeries, special treatments, medications, etc.)
  • Developmental milestones of your child (age at when your child first attained specific skills)
  • A three-generation family history (known birth defects, genetic disease, chronic conditions, mental retardation, pregnancy losses, infertility, etc.) for you, your child, your brothers and sisters and their children, and your parents generation.

We understand that this information can be difficult to obtain and you may find it helpful to talk with other family members. If for any reason you are not able to obtain this information, please contact our clinic. We do not want that to be a barrier to scheduling your appointment.

At the Appointment

Appointments for genetic evaluations and genetic counseling are often more detailed and somewhat different from other medical appointments you or your child may have had. The appointment can often be an hour or more, depending on the complexity of the problem for which you or your child are being seen.

Once you arrive at the appointment, your or your child's height, weight and blood pressure may be taken. You will then meet with one or more members of our care team, depending upon the reason for your visit and the review of the information collected prior to the visit.

A detailed and very descriptive genetics examination may be performed. It may be that other tests or consultations with other specialists will be recommended to help make a diagnosis. A diagnosis, which is the goal of a genetics evaluation, will help us provide you with the most complete and accurate information possible. This may include:

  • Cause
  • Pattern of inheritance and implications for other family members
  • Natural history (what many people with the same condition experience)
  • Available treatment and other needed medical management
  • Recurrence risks (for future children and other family members) and possible prenatal diagnostic options
  • Available educational and support resources

If a diagnosis is not made, a follow-up visit may be recommended as new information and genetic testing is continuously becoming available and certain genetic conditions may become more obvious over time.

After the Appointment

You and your child or your child's doctor will receive a letter shortly after the appointment that summarizes the information that was discussed, any tests that were ordered and referrals that were made. This letter is part of your or your child's permanent medical record and will not be shared with anyone without your written permission.