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HelpTest Code LPCBS Lysophosphatidylcholines, LC MS/MS, Blood Spot
Reporting Name
LysoPC by LC MS/MS, BSPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Useful For
Second-tier newborn screen for X-linked adrenoleukodystrophy
This test is not intended for metabolic screening of symptomatic patients.
This test is supplemental and not intended to replace state mandated newborn screening.
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Specimen Required
Supplies: Card-Blood Spot Collection (Filter Paper) (T493)
Container/Tube:
Preferred: Blood Spot Collection Card
Acceptable: PerkinElmer 226 filter paper, Munktell filter paper, Whatman Protein Saver 903 Paper, local newborn screening card, or blood collected in tubes containing ACD or EDTA, and then spotted and dried on filter paper
Specimen Volume: 2 Blood spots
Collection Instructions:
1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.
2. Completely fill at least 2 circles on the filter paper card (approximately 100 microliters blood per circle).
3. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.
4. Do not expose specimen to heat or direct sunlight.
5. Do not stack wet specimens.
6. Keep specimen dry.
Additional Information:
1. For collection instructions, see Blood Spot Collection Instructions.
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777).
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800.
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.
Specimen Type
Whole bloodSpecimen Minimum Volume
1 Blood spot
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Refrigerated (preferred) | 90 days | FILTER PAPER |
| Frozen | 90 days | FILTER PAPER | |
| Ambient | 28 days | FILTER PAPER |
Reject Due To
| Blood spot specimen that shows serum rings or has multiple layers | Reject |
| Insufficient specimen | Reject |
| Specimens known to have been exposed to elevated temperature above ambient | Reject |
Reference Values
|
Analyte |
Normal Range (nmol/mL) |
|
C20 Lysophosphatidylcholine |
Not applicable |
|
C22 Lysophosphatidylcholine |
Not applicable |
|
C24 Lysophosphatidylcholine |
≤0.41 |
|
C26 Lysophosphatidylcholine |
≤0.31 |
Interpretation
In female patients: Elevations of C24 lysophosphatidylcholine (LPC) or C26 LPC may be indicative of heterozygosity for X-linked adrenoleukodystrophy (XALD) or other forms of peroxisomal disorders.
In male patients: Elevations of C24 LPC or C26 LPC may be indicative of XALD or other forms of peroxisomal disorders.
Abnormal results are not sufficient to conclusively establish a diagnosis of a particular disease. To verify a preliminary diagnosis based on the analysis, independent biochemical (eg, in vitro enzyme assay) or molecular genetic analyses are required.
Day(s) Performed
Monday through Saturday
Report Available
2 daysTest 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.CPT Code Information
82542
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| LPCBS | LysoPC by LC MS/MS, BS | 105457-6 |
| 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 |
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.
Special Instructions
Testing Algorithm
For more information see Newborn Screen Follow-up for X-linked Adrenoleukodystrophy.
If the patient has an abnormal newborn screening result for X-linked adrenoleukodystrophy, immediate action should be taken. Refer to the appropriate ACMG Newborn Screening ACT Sheet.(1)