קוד CPT
82726
שם הבדיקה
Very long chain fatty acids (VLCFA), Serum
שמות נוספים לבדיקה
VLCFA, חומצות שומן ארוכות מאד בסרום, PHYTANIC Acid, PRISTANIC Acid , C22:0, C24:0, C26:0
לאבחנה/טיפול
Diagnosis and monitoring of peroxisomal disorders (e.g., Zellweger syndrome, X-linked adrenoleukodystrophy (X-ALD))
שיטת ביצוע הבדיקה
GC MS Detector
מגבלות השיטה
Not always definitive: Abnormal VLCFA levels are highly suggestive of a peroxisomal disorder but not always conclusive. Further testing, including genetic testing and enzyme assays, is often needed to confirm the diagnosis and determine the specific type of disorder. Dietary influences, false positive results may occur with nonfasting specimens
