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HelpTest ID BLOD1249 Fatty Acid Profile, Peroxisomal (C22-C26), Serum
Useful For
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
Specimen Type
SerumNecessary Information
1. Patient's age and sex is required.
2. Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.Specimen Required
Patient Preparation: Fasting 12 hours or more. (Collect specimens from infants and small children just before next feeding)
Supplies: Sarstedt Aliquot Tube, 5 mL (T914)
Collection Container/Tube:
Preferred: Serum gel
Acceptable: Red top
Submission Container/Tube: Plastic vial
Specimen Volume: 1.5 mL
Collection Instructions: Centrifuge and aliquot serum into plastic vial.
Specimen Minimum Volume
0.15 mL
Reject Due To
| Gross hemolysis | OK |
| Gross lipemia | Reject |
| Gross icterus | OK |
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Serum | Frozen (preferred) | 92 days | |
| Refrigerated | 15 days |
Day(s) Performed
Monday through Friday
Report Available
3 to 5 daysMethod Name
Gas Chromatography Mass Spectrometry (GC-MS)
Performing Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
82726
Reporting Name
Fatty Acid Profile, Peroxisomal, SReference Values
C22:0
≤96.3 nmol/mL
C24:0
≤91.4 nmol/mL
C26:0
≤1.30 nmol/mL
C24:0/C22:0 RATIO
≤1.39
C26:0/C22:0 RATIO
≤0.023
PRISTANIC ACID
0-4 months: ≤0.60 nmol/mL
5-8 months: ≤0.84 nmol/mL
9-12 months: ≤0.77 nmol/mL
13-23 months: ≤1.47 nmol/mL
≥24 months: ≤2.98 nmol/mL
PHYTANIC ACID
0-4 months: ≤5.28 nmol/mL
5-8 months: ≤5.70 nmol/mL
9-12 months: ≤4.40 nmol/mL
13-23 months: ≤8.62 nmol/mL
≥24 months: ≤9.88 nmol/mL
PRISTANIC/PHYTANIC ACID RATIO
0-4 months: ≤0.35
5-8 months: ≤0.28
9-12 months: ≤0.23
13-23 months: ≤0.24
≥24 months: ≤0.39
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.Testing Algorithm
For more information see:
-Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy
-Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
-Newborn Screening Act Sheet X-Linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids
Special Instructions
Forms
1. Biochemical Genetics Patient Information (T602)
2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
SANFORD INTERFACE BUILD INFORMATION
| Result Code | Result Code Description |
|---|---|
| 13269 | C22:0 |
| 13270 | C24:0 |
| 13271 | C26:0 |
| 13272 | C24:0/C22:0 |
| 13273 | C26:0/C22:0 |
| 13274 | Pristanic Acid |
| 13275 | Phytanic Acid |
| 13276 | Pristanic/Phytanic |
| 13277 | Comment |