At
the present time, patients may be referred for evaluation
of:
- Glut-1
DS (glucose transporter type-1 deficiency syndrome)
- MELAS
(mitochondrial encephalopathy, lactic acidosis and
stroke-like episodes)
- MERRF
(mitochondrial encephalomyopahy with ragged-red fibers)
- Pyruvate
dehydrogenase deficiency
- Pyruvate
carboxylase deficiency
All
referrals must be sent by pediatric neurologists at
the request of patients and parents. Initial enquiries
and correspondence after receipt of referral information
may be held via electronic mail at: giblinlabs@neuro.columbia.edu
Referral
information must be sent by mail from a physician’s
office and must include:
*
Referring physician contact information, including e-mail
*
Patient insurance and contact information
*
Brief clinical summary (limit one page)
*
Copies of complementary explorations’ reports; in particular,
results of cerebrospinal fluid analysis, neuroimaging,
electroencephalography and related techniques.
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, copies should be provided.
Mailing
address:
Dr.
Darryl De Vivo
Colleen Giblin Laboratories
Neurological Institute
710 West 168th Street
New York, NY 10032
Disclaimer
The
results of this evaluation may not be considered for
clinical use and will be provided only on a research
basis. They are not intended to supersede or modify
the clinical judgment of the referring or treating physicians.
The
Colleen Giblin Laboratories, staff, its funding and
supporting institutions will not be liable for any consequences
derived from the knowledge or use of any information
provided to the involved health professionals or to
the individuals studied.
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