Genetics

Clinical Genetics

This section provides comprehensive diagnostic evaluations, follow-up care and genetic counseling for both inpatients and outpatients. Patients are seen by a clinical geneticist and a genetic counselor. Individuals with developmental delay or mental retardation, birth defects, multisystem medical problems, unusual facial features or failure to thrive are referred for evaluation and diagnosis of a genetic syndrome or a chromosomal abnormality.

Clinical programs

First-time evaluations take place in the Genetics Clinic. Patients with a known diagnosis are also followed in this clinic to provide families with updated information regarding their condition.

We offer a specific genetics clinic for patients with hearing loss, both isolated and syndromic. Evaluation and genetic counseling are provided.

The section offers a multispecialty clinic, the 22q and You Center, for children and adults with a chromosome 22q11.2 deletion. This is the largest program in the country specializing in this condition. Here, patients may be seen by as many as 15 subspecialists with expertise in this diagnosis over a three- to five-day period. Appointments are coordinated by the center. The program includes a parent support group and a newsletter entitled "22q and You."

As part of the Cleft Lip and Palate Clinic and the Craniofacial Clinic, the geneticists and genetic counselors perform diagnostic evaluations and offer patients the latest in diagnostic testing in these areas. Many patients with specific genetic conditions are evaluated through subspecialty clinics specific to their condition. These include clinics for:

The multispecialty Marfan and Williams Syndrome Clinics, in addition to providing superior care, offer patients a means to schedule all necessary tests and appointments into one or two days.

For more information or to refer a patient, call 215-590-2920.

The Individualized Medical Genetics Center

The Individualized Medical Genetics Center (IMGC) facilitates access to genetic testing across The Children’s Hospital of Philadelphia.

If your child’s doctor suspects your child’s features are due to a genetic cause, the IMGC is available to coordinate appropriate genetic testing, which may include multiple gene panels, microarray-based testing and exome sequencing.

The IMGC helps families understand any genetic testing recommended, and will walk you through the consent and insurance approval process. We carefully capture phenotype, gathering concise medical, developmental and family histories and using 3D imaging technology to give us a complete view of your child’s features and symptoms.

After your child’s genetic testing is complete, our team coordinates the interpretation of test results and communication of those results to referring clinicians and families to help plan next steps.

Referring a patient to the IMGC

If your child is seen by a specialist at CHOP who suspects that his or her features or symptoms are due to a genetic cause, your child may be referred to the IMGC.

For more information or to refer a patient, please email the IMGC team or call 1-844-873-4642. Information can also be faxed to 267-426-7152.

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