Test Catalog

Test Id : AK1

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Adenylate Kinase Enzyme Activity, Blood

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Overview

Test Catalog

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

Evaluation of chronic nonspherocytic hemolytic anemia

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

Kinetic Spectrophotometry

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

Adenylate Kinase, B

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

Adenylate Kinase (RBC)

Adenylate Kinase, B

Specimen Type
Describes the specimen type validated for testing

Whole Blood ACD-B

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

Collection Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions: Send specimen in original tube. Do not transfer blood to other containers.

Forms

If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755) with the specimen.

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.

1 mL

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

Gross hemolysis Reject
Fully clotted 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 ACD-B Refrigerated 20 days

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

Evaluation of chronic nonspherocytic hemolytic anemia

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

Adenylate kinase (AK) is a monomeric enzyme that catalyzes the nucleotide phosphoryl interconversion of adenosine triphosphate (ATP) and adenosine monophosphate (AMP) to 2 molecules of adenosine diphosphate (ADP). The level of enzyme activity in neonates is normally mildly to moderately lower than in adults. AK deficiency (OMIM 612631) is a rare cause of autosomal recessive nonspherocytic hemolytic anemia.

 

Although rare, AK deficient-associated anemia has been described in multiple families of varied ethnic origin. Those individuals with heterozygous genetic alterations are predominantly asymptomatic and show a normal phenotype. Those individuals with homozygous or compound heterozygous genetic alterations display congenital chronic nonspherocytic hemolytic anemia (hemoglobin [Hb] levels of 8-9 g/dL) with hyperbilirubinemia and gallstones. Patients typically present at birth or in early childhood. Some patients have psychomotor impairment, although the pathogenesis is not well understood. Concurrent glucose 6-phosphate dehydrogenase (G6PD) deficiency exacerbates the anemia (Hb 6 g/dL). AK activity levels range from 0% to 44%, although most show less than 30% activity. Carriers have normal to only mildly decreased enzyme activity (1). Patients may respond well to splenectomy.

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.

> or =12 months: 195-276 U/g Hb

Reference values have not been established for patients who are less than 12 months of age.

Interpretation
Provides information to assist in interpretation of the test results

In adenylate kinase deficiency, values are expected to be less than 30% of normal mean, although this value should be interpreted in the context of age of the patient and other enzyme values.

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

Recent transfusion may mask the patient's intrinsic enzyme activity and cause unreliable results.

 

Some enzyme deficiency disorders can be masked by reticulocytosis and comparison of activities of other RBC enzyme activities in this panel can be useful.

 

Adenylate kinase enzyme activity can normally be mildly to moderately decreased in neonates.

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

1. Niizuma H, Kanno H, Sato A, Ogura H, Imaizumi M: Splenectomy resolves hemolytic anemia caused by adenylate kinase deficiency. Pediatr Int. 2017;59(2):228-230

2. Rapley S, Harris H: Red cell adenylate kinase activity in AK1 and AK 2-1 phenotypes. Annals of Human Genetics. 1970;33:361-364. doi: 10.1111/j.1469-1809

3. Mohrenweiser HW. Frequency of enzyme deficiency variants in erythrocytes of newborn infants. Proc Natl Acad Sci U S A. 1981;78(8):5046-5050

4. Corrons JL, Garcia E, Tusell JJ, Varughese KI, West C, Beutler E: Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia. Blood. 2003;102(1):353-356

5. Toren A., Brok-Simoni F, Ben-Bassat I, et al: Congenital haemolytic anaemia associated with adenylate kinase deficiency. Brit. J. Haemat. 1994;87(2):376-380

6. Bianchi P, Zappa M, Bredi E, et al: A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (arg107-to-stop, CGA-to-TGA) associated with chronic haemolytic anaemia. Brit. J. Haemat. 1999;105(1):75-79

7. Lachant NA, Zerez CR, Barredo J, et al: Hereditary erythrocyte adenylate kinase deficiency: A defect of multiple phosphotransferases? Blood. 1991;77(12):2774-2784

8. Koralkova P, van Solinge WW, van Wijk R: Rare hereditary red blood cell enzymopathies associated with hemolytic anemia-pathophysiology, clinical aspects and laboratory diagnosis. Int J Lab Hematol. 2014;36(3):388-397

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

Adenylate kinase (myokinase) catalyzes the dismutation of adenosine diphosphate (ADP) into adenosine monophosphate and adenosine triphosphate. In this assay, the reverse reaction is measured by following the formation of ADP with pyruvate kinase and lactate dehydrogenase reactions resulting in 1,4-dihydronicotinamide adenine dinucleotide (NADH) being oxidized to NAD(+). The decrease in absorbance that occurs as NADH is oxidized is measured spectrophotometrically at 340 nm by an automated chemistry analyzer.(Beutler E: Red Cell Metabolism. A Manual of Biochemical Methods. 3rd ed. Grune and Stratton; 1984:93-95; van Solinge WW, van Wijk: Enzymes of the red blood cell. In: Rifai N, Horvath AR, Wittwer CT: eds. Tietz Textbook of Clinical Chemistry and Molecular Diagnostics. 6th ed. Elsevier; 2018:chap 30)

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.

1 to 6 days

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

7 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.

82657

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
AK1 Adenylate Kinase, B 44051-1
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.
AKCL Adenylate Kinase, B 44051-1

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