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





RESPIRATORY CHAIN ENZYMES



Because the 13 proteins encoded by mtDNA are all components of respiratory chain complexes, any deleterious mutation or severe depletion of mtDNA results in impaired function of this vital terminal pathway of mitochondrial metabolism, with decreased ATP generation, excessive production of reactive oxygen radicals (ROS), or both situations.

Specimen:


Biopsy should be snap frozen immediately in liquid nitrogen and shipped on dry ice. The biopsy should be approximately 0.1 cm in diameter and 0.5 cm in length; approximate weight should be 100-200 mg.

Shipping:


Muscle: should be sent frozen on dry ice and by overnight carrier to the address below.

Dr. Ali Naini


Laboratory of Melocular Neurogenetics


Columbia University Medical Center
Department of Pathology
630 West 168th Street, P&S 17th Floor, Room 401
New York, NY 10032

Phone: 212-305-3947
Fax: 212-342-0420

CPT Codes:

82657 times 6, and 83912

Price:


$550.00 6-enzyme battery
The Merritt Center The Merritt Center CUMC NINY