mitochondrial diseases
The Diagnosis of Mitochondrial Diseases Brochure
(click to download)




Requisition & Consent Forms




Mitochondrial Diseases (Biochemistry and/or DNA Analysis)



Samples for Clinical testing must include the following requisition form:
Download requisition form

Participation in Research:
Most patients with suspected mitochondrial disorders have no molecular confirmation. The H. Houston Merritt Clinical Research Center at Columbia University Medical Center in NYC would appreciate the left-over tissue from the samples that your patient provides for clinical analysis. On selected cases, the Research Center will perform additional DNA analysis that could provide insight into the etiology of mitochondrial disease. In the event that the Merritt Center discovers information that would be useful to the clinical care of your patient, you will be contacted regarding the patient. There is no guarantee that any analysis will be performed on these research samples now or into the future. Those who wish to participate should contact the study coordinator or Dr. DiMauro to discuss consent procedures. Phone numbers are listed on the front of the consent form. The signed consent and HIPAA form should be sent to the research laboratory in any of the following ways: 1) send along with the tissue sample, 2) mailed to Dr. DiMauro at [Columbia University, P&S Building 4-423, 630 W 168th St, New York City, NY 10032]. Please let us know that your sample/consent is being sent by calling the research team whose contact information is on the front of the consent.
Download Adult Consent Tissue Sample form
Download Parental Consent Tissue Sample form
Download HIPAA Tissue Sample form



Glycogenoses and Lipid Disorders Biochemistry


Download requisition form



Glycogenoses and Lipid Disorders DNA Analysis


Download requisition form



Request for Molecular Genetic Testing for SOD1 Gene Analysis for Amyotrophic Lateral Sclerosis


Download requisition form



Request for Molecular Genetic Testing for: Early-Onset Torsion Dystonia (DYT1)


Download requisition form



Request for Molecular Genetic Testing for: SMN1 Gene Analysis for Spinal Muscular Atrophy


Download requisition form



Request for Molecular Genetic Testing for: SMN1 and SMN2 GENE Dosages to Determine Spinal Muscular Atrophy Status


Download requisition form



Request for Genetic Testing for: Mitochondrial DNA Whole Genome Sequencing


Download requisition form



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