Information for Referring Physicians

At the present time, patients may be referred for evaluation of:

1. Glut-1 DS (glucose transporter type-1 deficiency syndrome)
2. MELAS (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes)
3. MERRF (mitochondrial encephalomyopahy with ragged-red fibers)
4. Pyruvate dehydrogenase deficiency
5. Pyruvate carboxylase deficiency
6. Ion channel disorders
7. Genetic and metabolic encephalopathies of unknown origin
8. Genetic and metabolic myopathies of unknown origin

There may be fees associated with the evaluation.

Upon review of this information, if warranted, further documentation and blood samples of the patient and immediate relatives may be requested. None of the items received will be returned. Therefore, only copies should be provided.

A. GENERAL REFERRALS (EXCLUDING Glut-1 DS)

All referrals must be made using the following forms and signed by patients and/or parents and the referring physician. They should be sent via regular mail to the address listed below. Please read the form instructions and conditions carefully.

Download Physician Referral form (do not use for Glut-1 DS)

B. Glut-1 DS REFERRALS

Prior contact with us is required. No documents or samples will be accepted without our prior approval. Please call either the lab or one of the coordinators listed below before sending any information. After contact has been made and approval acquired, referrals may be sent via regular mail or electronically to the address listed below. Please read the forms instructions and conditions carefully.

Download Physician Referral form (Glut-1 DS only)

Contact Information:

Laboratory phone:

Laboratory fax:

Clinical Coordinators:

Kristin Engelstad     Phone: 212-305-6834 || Fax: 212-305-0431     E-mail: ke4@columbia.edu