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Test 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)

 

An aid in the assessment of peroxisomal function

Specimen Type

Serum


Specimen Required


Collection Container/Tube:

Preferred: Red top

Acceptable: Serum gel

Submission Container/Tube: Plastic vial

Specimen Volume: 0.5 mL

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.

Additional Information:

1. Patient's age and gender is required.       

2. Include information regarding treatment, family history, and tentative diagnosis.


Specimen Minimum Volume

0.15 mL

Reject Due To

Hemolysis

Mild OK; Gross OK

Lipemia

Mild reject; Gross reject

Icterus

Mild OK; Gross OK

Other

NA

Specimen Stability Information

Specimen Type Temperature Time
Serum Frozen (preferred) 92 days
  Refrigerated  15 days

Day(s) and Time(s) Performed

Monday through Friday; 7 a.m.

Analytic Time

4 days (not reported on Saturday or Sunday)

Method Name

Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82726

Reporting Name

Fatty Acid Profile, Peroxisomal, S

Reference 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. This test has not been cleared or approved by the U.S. Food and Drug Administration.

Testing Algorithm

See Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy in Special Instructions.

 

For more information, see Newborn Screening Act Sheet X-linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids in Special Instructions.

Forms

If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen. 

Sanford Laboratories - Fargo Additional Information:

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