Before your appointment

Before scheduling an appointment with one of our physicians, we will need to review your child’s medical records. The ‘Medical Records and Reports Checklist’ below outlines what records you’ll need to submit to the clinic. These records refer to evaluations/studies that were performed outside of the CHOP healthcare system or were performed at CHOP prior to 2008.

Medical records and reports checklist

• Clinical genetics evaluations
• Genetic test results (please bring a copy of any genetic test result even if the ordering physician was a CHOP physician.)
• Enzymatic test results or other relevant biochemical labs
• Prior imaging — MRIs, X-rays, ultrasounds, etc.
• Prior specialty evaluations — cardiology evaluations (including echocardiogram and EKG), neurology, audiology, ophthalmology, pulmonology, otorhinolaryngology, gastroenterology, endocrinology, dermatology, orthopedics, etc.
• Records from prior hospitalizations and/or surgeries
• Pediatric growth chart (height, weight, head circumference) from pediatrician
• Any other documents relevant to the patient’s medical history and/or diagnosis

Please send relevant paperwork as soon as possible via fax or direct mail.

Fax: 215-590-4297 with cover page detailing the following:
Attention: Division of Biochemical Genetics
Requesting appointment with LSD Center

Mail: Children's Hospital of Philadelphia
Colket Translational Research Building
Division of Biochemical Genetics
3501 Civic Center Boulevard, 9000
Philadelphia, PA 19104

The patient's primary care physician or other specialists may also reach out to us to share records or request a consultation.

Scheduling an appointment

Please call our department at 215-590-3376 to schedule your appointment. If your medical records are received and reviewed, your child will be placed on the schedule based on physician availability. Urgent appointments are possible within one to two weeks if all records are available, an appropriate medical indication is present, and a physician referral is made to support this appointment.

If your child's insurance requires you to have a referral, please obtain one in advance of your child's scheduled visit. This referral should include the visit as well as lab tests. If you are not sure if a referral is needed, please check with your child's primary care doctor or with your insurer.

Day of your visit

The Lysosomal Storage Disease Center is located on the 9^th floor of the CHOP Buerger Center for Advanced Pediatric Care. You may park beneath the building in the Buerger Center Parking Garage. Please check in at the patient desk on the first floor, then proceed to the patient registration desk located just outside of the elevators on the ninth floor.

Remember that arriving late or failing to obtain a referral (if your insurance requires it) may cause you to lose your appointment.