General Genetics Clinic

The General Genetics Clinic is in the Division of Genetic and Genomic Medicine. This division of UPMC Children's Hospital of Pittsburgh provides evaluation, diagnosis, treatment, and genetic counseling for kids with known or suspected genetic disorders.

The genetic disorders that the clinic treats are not part of the division's Inborn Errors of Metabolism program.

Reasons for a Medical Genetics visit may include, but are not limited to:

  • A known genetic condition.
  • Symptoms that suggest a known genetic condition.
  • A family history of a genetic condition.
  • Other family members with similar health concerns.
  • Congenital disabilities.
  • Autism spectrum disorder, intellectual disability, learning disabilities, mental health diagnoses, or behavioral concerns.
  • Developmental delay or regression of skills.
  • Increased or decreased muscle tone.
  • Poor growth, including short stature and failure to thrive.
  • Unusual skin findings, including birthmarks and light or dark areas of skin pigment.
  • Hearing or vision loss.

What To Expect At An Appointment

Both a genetic counselor and a medical genetics provider staff all our visits. This may include a geneticist or nurse practitioner trained in genetics.

The team will review your or your child's health records. They will collect a detailed family history and discuss your concerns.

After you meet with the genetic counselor, your genetics provider will perform a physical exam. This may include taking specific measurements or looking for unique features.

Afterward, the team will review their plan with you. They will also discuss testing options. This may include:

  • General labs or imaging studies.
  • Genetic testing.
  • A referral to another specialist.

Your visit may take 2 to 3 hours.

What Should I Bring?

For your scheduled appointment, please bring:

  • Your insurance card and co-pay.
  • Any relevant health records or notes from referring providers outside the UPMC health system.
  • Any needed medical supplies or medicine.
  • Snacks, drinks, toys, or entertainment for you or your child.

Though a doctor's referral is not required, it is highly suggested. We accept most insurance plans.

Exams are thorough, detailed medical visits that may take 2-3 hours.

Families can also prepare for clinic visits by printing and completing paperwork. This may include:

These forms are also on our resources page.

What Types Of Genetic Testing Do You Offer?

We offer a variety of genetic tests, including:

  • Microarray testing.
  • Exome sequencing.
  • Genetic panel testing.

Your genetics team will perform a detailed exam. They will pick the test based on you or your child's:

  • Clinical symptoms.
  • Family history.
  • Physical exam.

We work with UPMC lab services and outside genetics laboratories. We do this to provide your family with the most appropriate and up-to-date testing.

We do not perform pharmacogenomic testing. We also do not interpret direct-to-consumer testing or testing that lacks clinical utility. This follows current professional societal guidelines.

Will My Child Complete Genetic Testing On The Same Day As The Clinic Visit?

Your genetics provider will do a thorough exam. They may then suggest genetic testing. But it is not typically done on the same day as your first visit.

Your insurance company will need to approve coverage of most genetic tests. Our office can handle this process. But it can take weeks to several months to complete.

When your insurance approves the test, we will contact you. We will explain the next steps in the sample collection process.

UPMC labs complete some genetic tests. We send others to expert labs that we work with throughout the country.

How Much Does Genetic Testing Cost?

You can estimate your out-of-pocket cost for testing once you get insurance approval. Use the UPMC Children's Hospital of Pittsburgh Price Estimation tool to do so.

If the testing is expensive, your genetic counselor can review other options. These may include:

  • Self-pay options.
  • Sponsored testing programs.
  • Research programs that do genetic testing.
  • Grant-related support.

How Long Does It Take To Receive Genetic Test Results?

Some genetic tests come back in as little as 2-4 weeks. Others can take 4-6 months. Your genetic counselor can estimate when you'll get your test results.

Your genetics team will receive and review the results of your testing. Then, they will discuss them with you.

How Will I Receive My Genetic Testing Results?

There are many ways to get test results, including:

  • Phone calls.
  • Video visits.
  • Letters.
  • Patient portal messages.

During your visit, you and your genetics team will plan how you would prefer to learn your child's test results. This may include a follow-up visit with your genetic counselor. You can choose to meet in person or through telemedicine.

Your patient portal may also release test results. You may see your results before your provider does. Some test results enter the portal and are visible to patients and providers at once.

Genetic testing results can be complex. The genetics team usually needs 2-4 weeks to review and interpret genetic testing results. Then, they will contact you to discuss.

If you have questions about your test results, contact the provider who ordered the test.

Contact the General Genetics Clinic

To schedule a genetics appointment or consultation, please call 412-692-5070.