Laboratory Clients: Medical Neurogenetics works with many laboratories around the world to augment their testing capabilities and support their needs. If you are a new laboratory client, please contact testinginformation@mnglab.com for additional information and assistance.

Genetic Testing Tip: Blood carnitine levels are useful in detecting and monitoring secondary carnitine deficiencies as caused by the formation of acylcarnitine species in certain disorders such as the organic acidemias or in valproate therapy. Obtaining both blood and urine carnitine levels are necessary to detect a primary systemic carnitine deficiency. Blood levels will be close to zero and urine will contain free carnitine. In muscle carnitine deficiency, carnitine levels must be measured in the muscle. Blood and urine levels are nondiagnostic.

Anesthesia and Mitochondrial Cytopathies: An increased awareness is needed whenever a person with a mitochondrial cytopathy is contemplating or undergoing a surgical procedure. By virtue of the illness itself, there are greater risks involved with every medical intervention. The safest anesthetic is not known and the choice of anesthetic must be individualized to the patient’s particular needs. Although anesthetic agents may play a contributing factor in causing an adverse event associated with surgery, the illness, the stress of that illness, the surgical procedure and concurrent infections may play a larger role in causing neurologic deterioration. With additional research, more will be learned about these problems.