Evaluating patients with possible peroxisomal disorders, single-enzyme defects of peroxisomal metabolism such as X-linked adrenoleukodystrophy or peroxisomal biogenesis disorders (Zellweger syndrome spectrum) using serum specimens Aiding in the assessment of peroxisomal function This test analyzes very long-chain fatty acids (VLCFA) as well as pristanic and phytanic acid to aid in diagnosis of peroxisomal biogenesis disorders (PBD), X-linked adrenoleukodystrophy (X-ALD), and Refsum disease. Reports include concentrations of C22:0, C24:0, C26:0 species, phytanic acid and pristanic acid, and calculated C24:0/C22:0, C26:0/C22:0, and phytanic acid/pristanic acid ratios. This test is also appropriate for follow-up of an abnormal newborn screen for X-ALD.
Specimen Type
Blood
Container
Red Top Tube or Gold Top Tube
Collection Instructions
Container/Tube: Red Top Tube or Gold Top Tube Specimen : 0.5 mL (0.2 mL min) Transport Temperature: Refrigerated Collection Instructions: 1. Fasting-overnight (12-14 hours). 2. Patient must not consume any alcohol for 24 hours before the specimen is drawn. 3. Spin down within 45 minutes of draw.
Transport Instructions
Refrigerated
Specimen Stability
15 Days Refrigerated 92 Days Frozen
Methodology
Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis
