תיאור הבדיקה

קוד CPT

82017

תיאור הבדיקה

Acyl Carnitine, Profile DBS

שמות נוספים לבדיקה

AcylCarnitine, פרופיל אציל קרניטין, בדם יבש

לאבחנה/טיפול

Diagnosis of fatty acid oxidation disorders (FAODs), Detection of Organic Acid Metabolism Disorders, monitoring of patients with inborn errors of metabolism

שיטת ביצוע הבדיקה

LCMSMS

מגבלות השיטה

Acylcarnitine analysis may be normal when the patient is well and metabolically stable. Specimens collected even after a partial recovery may not reveal diagnostic abnormalities that are more readily detectable, under acute conditions. In some patients, an abnormal acylcarnitine pattern is only found during metabolic decompensations or after a prolonged exercise test. Dietary factors such as medium-chain triglyceride (MCT) –containing formulas, fasting, ketogenic diet, carnitine supplementation, and total parenteral nutrition may influence acylcarnitine profiles.