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Test ID LPCBS Lysophosphatidylcholines by LC MS/MS, Blood Spot

Useful For

Second-tier newborn screen for X-linked adrenoleukodystrophy (X-ALD)

Genetics Test Information

This test is used as a second-tier newborn screen for X-linked adrenoleukodystrophy (X-ALD).

Highlights

Testing for C24:0 lysophosphatidylcholines (LPC) and C26:0 LPC can aid in the diagnosis of X-linked adrenoleukodystrophy (X-ALD) as well as other types of peroxisomal disorders.

 

Analysis of LPCs in a blood spot test is a useful second-tier newborn screen test for X-ALD.

Method Name

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Reporting Name

LysoPC by LC MS/MS, BS

Specimen Type

Whole blood


Specimen Required


Supplies: Card-Blood Spot Collection (Filter Paper) (T493)

Container/Tube:

Preferred: Blood Spot Collection Card (T493)

Acceptable: Ahlstrom 226 filter paper, Munktell and Whatman Protein Saver 903 Paper

Specimen Volume: 2 blood spots

Collection Instructions:

1. Completely fill at least 2 circles on the filter paper card (approximately 100 microliters blood per circle).

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry.

Additional Information:

1. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

2. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.


Specimen Minimum Volume

Blood spot: 1

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated (preferred) 56 days FILTER PAPER
  Frozen  56 days FILTER PAPER
  Ambient  7 days FILTER PAPER

Reference Values

Analyte

Normal Range (mcg/mL)

C20 Lysophosphatidylcholine

Not applicable

C22 Lysophosphatidylcholine

Not applicable

C24 Lysophosphatidylcholine

≤0.25

C26 Lysophosphatidylcholine

≤0.20

Day(s) and Time(s) Performed

Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
LPCBS LysoPC by LC MS/MS, BS In Process

 

Result ID Test Result Name Result LOINC Value
34865 Interpretation (LPCBS) 59462-2
34860 C20 Lysophosphatidylcholine 90920-0
34861 C22 Lysophosphatidylcholine 90921-8
34862 C24 Lysophosphatidylcholine 90922-6
34863 C26 Lysophosphatidylcholine 90923-4
34864 Reviewed By 18771-6

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.

NY State Approved

Yes

Forms

1. Biochemical Genetics Patient Information (T602) in Special Instructions

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

Testing Algorithm

For more information, see the following documents in Special Instructions:

-Newborn Screening Act Sheet X-linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids

-Newborn Screen Follow-up for X-linked Adrenoleukodystrophy