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

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

Acceptable: PerkinElmer 226 (formerly Ahlstrom 226) filter paper, Munktell and Whatman Protein Saver 903 Paper

Specimen Volume: 2 blood spots

Collection Instructions:

1. An alternative blood collection option for a patient older than 1 year of age is fingerstick. See Dried Blood Spot Collection Tutorial for how to collect blood spots via fingerstick: https://vimeo.com/508490782 .

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 in Special Instructions.

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

3. 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

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 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 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

Method Name

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

Useful For

Second-tier newborn screen for X-linked adrenoleukodystrophy

 

This test is not intended for metabolic screening of symptomatic patients.

Clinical Information

This assay measures C20, C22, C24, and C26 lysophosphatidylcholine (LPC) species in dried blood spots by liquid chromatography-tandem mass spectrometry.

 

Peroxisomes are organelles present in all human cells except mature erythrocytes. They carry out essential metabolic functions including beta-oxidation of very long-chain fatty acids (VLCFA), alpha-oxidation of phytanic acid, and biosynthesis of plasmalogen and bile acids. Peroxisomal disorders include 2 major subgroups: disorders of peroxisomal biogenesis and single peroxisomal enzyme/transporter defects. Peroxisome biogenesis defects, such as Zellweger spectrum syndrome (ZSS), are characterized by defective assembly of the entire organelle, whereas in single enzyme/transporter defects, such as X-linked adrenoleukodystrophy (XALD), the organelle is intact, but a specific function is disrupted. These disorders are clinically diverse and range in severity from neonatal lethal to later onset milder variants.

 

XALD is a disorder affecting the nervous system, adrenal cortex, and testis. It is the most common of the peroxisomal disorders, affecting 1 in 17,000 to 1 in 21,000 male patients. At least 50% of all female patients who are heterozygotes for XALD are symptomatic. A defect in the ABCD1 gene is responsible for the disease. XALD shows a wide range of phenotypic expressions. The clinical phenotypes occurring in male patients can be subdivided in 4 main categories: cerebral inflammatory, adrenomyeloneuropathy (AMN), Addison only, and asymptomatic. The first 2 phenotypes account for almost 80% of the patients, while the frequency of the asymptomatic category diminishes with age and it is very rare after 40 years of age. It is estimated that approximately 50% of heterozygotes develop an AMN-like syndrome. Treatment options are hormone replacement therapy, dietary intervention, or hematopoietic stem cell transplantation.

 

Elevations of C24 LPC and C26 LPC may be indicative of XALD. In 2016, XALD was added to the US Recommended Uniform Screening Panel (RUSP), a list of conditions that are nationally recommended for newborn screening by the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. Therefore, measurement of LPCs is a useful second-tier test for newborn screening for XALD.

 

ZSS is a continuum of severe disorders affecting the nervous system, vision, hearing, and liver function. Most individuals present in infancy, but adult patients have been identified. The prevalence of ZSS is 1 in 50,000. ZSS follows autosomal recessive inheritance. At least 12 different genes have been implicated in ZSS, with approximately 60% to 70% of genetic variants occurring in PEX1. The clinical phenotypes include Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD).

 

Individuals with Zellweger syndrome typically die within the first year of life without making any developmental progress. Individuals with NALD or IRD typically present in childhood with developmental delays, vision loss, hearing loss, and have a much slower disease progression. There is no specific treatment for ZSS. Although ZSS disorders are not a primary disease target for testing, this test will detect infants with these disorders.

Interpretation

An interpretive report will be provided.

 

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.

Clinical Reference

1. Huffnagel IC, van de Beek MC, Showers AL, et al: Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy. Mol Genet Metab. 2017 Dec;122(4):209-215. doi: 10.1016/j.ymgme.2017.10.012

2. Klouwer FCC, Ferdinandusse S, van Lenthe H, et al: Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders. J Inherit Metab Dis. 2017 Nov;40(6):875-881. doi: 10.1007/s10545-017-0064-0

3. Sandlers Y, Moser AB, Hubbard LE, et al: Combined extraction of acyl carnitines and C26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy. Mol Genet Metab. 2012;105(3)416-420

Day(s) Performed

Monday through Sunday

Report Available

2 to 4 days
Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

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