Test Catalog

Test Id : ACHE_

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Acetylcholinesterase, Amniotic Fluid

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Overview

Test Catalog

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

Diagnosing open neural tube defects and, to a lesser degree, ventral wall defects

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

Polyacrylamide Electrophoresis

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

Acetylcholinesterase, AF

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

AChE-AF (Acetylcholinesterase, Amniotic Fluid)

Amniotic Fluid, Acetylcholinesterase

Specimen Type
Describes the specimen type validated for testing

Amniotic Fld

Additional Testing Requirements

If chromosome studies are also requested, see CHRAF / Chromosome Analysis, Amniotic Fluid for specimen requirements. When requested with chromosome analysis, the specimen cannot be frozen.

Necessary Information

1. Gestational age at amniocentesis is required.

2. If not ordering electronically, provide gestational age on Second Trimester Maternal Screening Alpha-Fetoprotein / Quad Screen Patient Information (T595) and send with specimen.

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
GACHE Gestational Age (ACHE)

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

Container/Tube: Amniotic fluid container

Specimen Volume: 1 mL

Collection Instructions: Specimen must be collected between 14 to 21 weeks gestation; 14 to 18 weeks is preferred.

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. The minimum volume is sufficient for one attempt at testing.

0.3 mL

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

Gross hemolysis OK
Gross icterus OK

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
Amniotic Fld Refrigerated (preferred) 365 days
Frozen 365 days
Ambient 14 days

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

Diagnosing open neural tube defects and, to a lesser degree, ventral wall defects

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

Neural tube defects (NTD) are a type of birth defect involving openings along the brain and spine. They develop in the early embryonic period when the neural tube fails to close completely. NTD can vary widely in severity. Anencephaly represents the most severe type of NTD, which occurs when the cranial end fails to develop properly, resulting in an absence of the forebrain, the area of the skull that covers the brain, and the skin. Most infants with anencephaly are stillborn or die shortly after birth. NTD along the spine are referred to as spina bifida. Individuals with spina bifida may experience hydrocephalus, urinary and bowel dysfunction, club foot, lower body weakness, and loss of feeling or paralysis. Severity varies depending upon whether the NTD is covered by skin, whether herniation of the meninges and spinal cord are present, and the location of the lesion. NTD not covered by skin are referred to as open NTD and are typically more severe than closed NTD. Likewise, those presenting with herniation and higher on the spinal column are typically more severe.

 

Most NTD occur as isolated birth defects with an incidence of approximately 1 to 2 in 1000 live births in the United States. Rates vary by geographic region with lower rates being observed in the North and West than in the South and East. A fetus is at higher risk when the pregnancy is complicated by maternal diabetes, exposed to certain anticonvulsants, or there is a family history of NTD. Studies have shown a dramatic decrease in risk as a result of maternal dietary supplementation with folic acid. The March of Dimes currently recommends all women of childbearing age take 400 mcg of folic acid daily, increasing the amount to 600 mcg/day during pregnancy. For women who have had a prior pregnancy affected by an NTD, the recommended dose is at least 4000 mcg/day starting at least 1-month preconception and continuing through the first trimester.

 

When an NTD is suspected based upon maternal serum alpha-fetoprotein (AFP) screening results or diagnosed via ultrasound, analysis of AFP and acetylcholinesterase (AChE) in amniotic fluid are useful diagnostic tools. AChE is primarily active in the central nervous system with small amounts of enzyme found in red blood cells, skeletal muscle, and fetal serum. Normal amniotic fluid does not contain AChE, unless contributed by the fetus as a result of an open NTD.

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.

Negative (reported as negative [normal] or positive [abnormal] for inhibitable acetylcholinesterase)

 

Reference values were established in conjunction with alpha-fetoprotein testing and include only amniotic fluids from pregnancies between 14- and 21-weeks gestation.

Interpretation
Provides information to assist in interpretation of the test results

The presence of acetylcholinesterase in amniotic fluid is consistent with open neural tube defects and, to a lesser degree, ventral wall defects.

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

False-positive acetylcholinesterase results may occur when blood is present in the amniotic fluid specimen or due to contamination from fetal calf serum.

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

1. Douglas Wilson R, Van Mieghem T, Langlois S, Church P. Guideline No. 410: Prevention, Screening, Diagnosis, and Pregnancy Management for Fetal Neural Tube Defects. J Obstet Gynaecol Can. 2021;43(1):124-139.e8. doi:10.1016/j.jogc.2020.11.003

2. Palomaki GE, Bupp C, Gregg AR, Norton ME, Oglesbee D. Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020;22(3):462-474

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

Acetylcholinesterase (AChE) and pseudocholinesterase (PChE) catalyze the deesterification of acetylthiocholine iodide to form a white copper thiocholine precipitate. The white precipitate is acted upon by dithiooxamide to provide a dark-green color. If 1,5 bis (4-allyldimethylammoniumphenyl) pentane-3-1 dibromide is present, it will inhibit the action of AChE on acetylthiocholine iodide but will not inhibit the activity of PChE. AChE and PChE are separated by polyacrylamide gel electrophoresis and then reacted with the inhibitor and substrate while remaining in the gel.(Barlow RD, Cuckle HS, Wald NJ. A simple method for amniotic fluid gel-acetylcholinesterase determination, suitable for routine use in the antenatal diagnosis of open neural tube defects. Clin Chim Acta. 1982;119:137-142); Cowan T, Pasquali M. Laboratory Investigations of Inborn Errors of Metabolism. In: Sarafoglou K, Hoffman GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. 2nd ed. McGraw Hill; 2017:1139-1158)

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.

Tuesday, Thursday

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.

3 to 7 days

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

60 days

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 account representative. 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. It 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.

82013

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
ACHE_ Acetylcholinesterase, AF 30106-9
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.
9287 Acetylcholinesterase, AF 30106-9
GACHE Gestational Age (ACHE) 18185-9

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