Your Child’s Appointment with the Mitochondrial-Genetic Disease Clinic

Prior to your appointment

Before scheduling an appointment, we will need to review medical records to ensure that Dr. Falk is the appropriate physician to see you or your child. The Medical Records and Reports Checklist outlines what records you’ll need to submit to the Clinic.

Please send relevant paper work as soon as possible. Records can be emailed, faxed to 215-590-4297 to the attention of Elizabeth McCormick with a fax cover page stating “requesting appointment with Dr. Falk”, or mailed to:

The Children's Hospital of Philadelphia
Section of Metabolic Diseases
Mitochondrial-Genetics Clinic
34th and Civic Center Boulevard
Philadelphia, PA 19104

Your child’s primary care physician or other specialists may also reach out to us to share records or request a consultation.

Medical records and reports checklist

Letters from the past five years of evaluations, including:

  • Neurological evaluations
  • Clinical Genetics evaluations
  • Ophthalmologic evaluations, including electroretinogram (ERG)
  • Audiological evaluations
  • Cardiology evaluations, including echocardiogram and electrocardiogram (EKG)
  • Gastrointestinal evaluations, including biopsy reports
  • Other specialist evaluations

Copies of images (digital copies on CD preferred) and written reports of previous imaging studies, including:

  • Brain MRI and/or MRS (spectroscopy)
  • Echocardiograms (written report only)
  • Ultrasounds

Reports of biochemical studies on blood or urine performed in the last two years, including:

  • Lactic acid level — in blood and/or cerebral spinal fluid level
  • Pyruvate level — in blood and/or cerebral spinal fluid level
  • Plasma amino acid analysis
  • Urine organic acid analysis
  • Carnitine analysis (total carnitine, free carnitine and acyl-carnitine profile)
  • Comprehensive chemistry panel
  • Creatine kinase
  • Complete blood count with differential
  • Other routine blood and/or urine studies

Reports of prior tissue studies, including:

  • Muscle biopsy analyses
  • Skin biopsy analyses
  • Liver biopsy analyses


  • Records from prior hospitalizations and/or surgeries
  • Copy of growth chart from pediatrician (height, weight and head circumference)
  • Genetic testing results

Scheduling an appointment

We will call you to schedule an appointment approximately 2-4 weeks after all medical records have been received and reviewed.

We strongly recommend that you contact your insurance company to determine your coverage for diagnostic testing, including genetic studies. Depending on your carrier, pre-authorization is frequently needed to allow blood and urine testing to be performed on the day of your visit at The Children’s Hospital of Philadelphia and many genetic studies may only be possible to be performed at a Children's Hospital of Philadelphia laboratory.

1-2 weeks prior to your scheduled appointment, a member of our team may contact you to ask for any additional information needed, such as your family history, to ensure a complete understanding of your child’s condition and background to best prepare for your visit. This detailed preparation will help make your visit as productive as possible.

Day of your visit

The Mitochondrial-Genetic Disease Clinic is located on the first floor of the Wood Center at the Main Campus of The Children’s Hospital of Philadelphia. You may park underneath the Wood Center and proceed to registration on the sixth floor of the Wood Center at the Metabolism and Biochemical Genetics Desk.

After registration, please come down to the first floor of the Wood Center to the Genetics waiting area.

What to expect at your appointment

Your child’s appointment will involve an extensive evaluation by Dr. Marni Falk during which she will confirm relevant medical findings with you, perform a detailed physical examination, and initiate any recommended diagnostic biochemical and genetic laboratory testing.

Our team will provide you with relevant mitochondrial disease counseling based on your or your child’s diagnosis, including an overview of mitochondrial disease features and genetics. We will also discuss the availability, benefits and limitations of different avenues of testing, as well as discuss initiating any supplement or vitamin therapies.

We will also make referrals to other specialists as needed to ensure coordinated long-term care. The following specialists are often involved in the care of patients with mitochondrial disease:

Because we have so much to cover during your visit, please plan to spend a minimum of 4 hours at CHOP for your appointment.

After your visit

The focus of the Mitochondrial-Genetic Disease Clinic is to identify the underlying cause of suspected mitochondrial disease. We do not provide the day-to-day medical management for your or your child’s medical concerns. It is important that you have a dedicated physician for ongoing medical needs, such as your primary care doctor or neurologist.

If genetic testing was recommended at your initial visit, results are typically available within 6-8 months. At this time, a member of our team will contact you to go over results or schedule a follow-up appointment to discuss these results in more detail.

Yearly follow-up appointments are typically recommended for those with a strong suspicion of mitochondrial disease with no known genetic cause.

Reviewed on May 01, 2014