Penn Medicine/Children’s Hospital of Philadelphia

Located in:
  • Pennsylvania

Director(s): Daniel Rader, MD, Rebecca Ganetzky, MD
Associate Director(s): Colleen Muraresku, MS, LCGC

Contact information

Penn Translational Medicine and Human Genetics

Serves mainly adults but some programs include children

215.614.0752

CHOP Division of Human Genetics

Serves children

215.590.2920

CHOP UDP - Undiagnosed Disease Program

The Undiagnosed Disease Program at Children’s Hospital of Philadelphia helps children with complex, unexplained medical conditions find answers through advanced genetic testing, expert evaluations, and research.
Serves children
Referrals: Accepts external, internal, and self-referrals. Self referrals are welcome, self referrals must come with a letter of recommendation from a physician or care team member (PT, GC, NP, RN).
Applications are available on the CHOP UDP website linked below.

Phone 267.426.2818; Fax 267.262.6719


NORD Center of Excellence Badge

Financial Assistance Information:

  • UPenn MedicineFinancial Assistance

    1-800-406-1177 Visit website
  • Children's Hospital of Philadelphia (CHOP)Family Health Coverage Program

    1-800-974-2125 Visit website