Test Catalog

Test Id : LPCBS

Lysophosphatidylcholines, LC MS/MS, Blood Spot

Useful For
Suggests clinical disorders or settings where the test may be helpful

Second-tier newborn screen for X-linked adrenoleukodystrophy

 

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

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

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

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

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

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

LysoPC by LC MS/MS, BS

Aliases
Lists additional common names for a test, as an aid in searching

Adrenoleukodystrophy (ALD)

Adrenomyeloneuropathy

LDSBS

LSDBS

Peroxisomal biogenesis disorders

X-linked adrenoleukodystrophy (XALD)

Zellweger Spectrum Syndrome (ZSS)

Zellweger Syndrome

C24 LPC

C26 LPC

LPCBS

LysoPC

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Specimen Type
Describes the specimen type validated for testing

Whole blood

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

Blood spot: 1

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Shows serum rings
Insufficient specimen
Layering
Multiple applications
Incubated/Exposed to temperatures above 37 degrees C
Reject

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

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

Useful For
Suggests clinical disorders or settings where the test may be helpful

Second-tier newborn screen for X-linked adrenoleukodystrophy

 

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

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

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

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

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.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Analyte

Normal Range (mcg/mL)

C20 Lysophosphatidylcholine

Not applicable

C22 Lysophosphatidylcholine

Not applicable

C24 Lysophosphatidylcholine

< or =0.25

C26 Lysophosphatidylcholine

< or =0.20

Interpretation
Provides information to assist in interpretation of the test results

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.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This test is supplemental and not intended to replace state mandated newborn screening.

 

This test cannot reliably detect carrier status (heterozygosity) for these conditions.

 

A positive test result is strongly suggestive of a diagnosis but requires follow-up by stand-alone biochemical or molecular assay, which is best coordinated by local genetics providers.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

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

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

Internal standard in methanol is added to a dried blood spot. The extract is evaporated and reconstituted prior to injection onto a liquid chromatography-tandem mass spectrometry (LC-MS/MS) system. The lysophosphatidylcholine (LPC) concentrations are measured by MS/MS analysis in the multiple reaction monitoring positive mode to follow the precursor to product species transitions. The ratio of the extracted peak area to internal standard as determined by LC-MS/MS is used to calculate the concentration of LPC species in the sample.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Sunday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

2 to 4 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

6 months

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

82542

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

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
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
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
34865 Interpretation (LPCBS) 59462-2

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports