Test Catalog

Test Id : METR1

Cytochrome b5 Reductase Enzyme Activity, Blood

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

Evaluation of patients with cyanosis

 

Confirming cases of suspected cytochrome b5 reductase (methemoglobin reductase) deficiency

 

Functional studies in families with cytochrome b5 reductase deficiency

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

Kinetic Spectrophotometry (KS)

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

Cytochrome b5 Reductase, B

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

Cytochrome b5 Reductase

Diaphorase

Ferrihemoglobin Reductase

Methemoglobin Reductase

Methemoglobin Diaphorase (Methemoglobin Reductase)

Specimen Type
Describes the specimen type validated for testing

Whole Blood ACD-B

Necessary Information

Patient's age is required.

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)

Acceptable: Lavender top (EDTA)

Specimen Volume: 6 mL

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

Forms

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

1 mL

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

Gross hemolysis 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 (preferred) 18 days

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

Evaluation of patients with cyanosis

 

Confirming cases of suspected cytochrome b5 reductase (methemoglobin reductase) deficiency

 

Functional studies in families with cytochrome b5 reductase deficiency

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

Cytochrome b5 reductase (CYB5R), also called methemoglobin reductase, is the enzyme within the erythrocyte that maintains hemoglobin in the reduced (non-methemoglobin) state. A deficiency of CYB5R in erythrocytes is an autosomal recessive disorder resulting from variants in the CYB5R3 or the CYB5A genes.

 

Persons who are heterozygous for CYB5R genetic variants have no clinical or laboratory abnormalities, are not cyanotic, and have normal methemoglobin concentrations in their blood. However, they hold an increased risk for more severely symptomatic acute episodes of methemoglobinemia with exposure to inducing agents.

 

Persons who are homozygous for CYB5R genetic variants have normal arterial oxygen saturation but have varying quantities of methemoglobin in their blood, generally 15% to 20%, and are quite cyanotic. Paradoxically, homozygotes typically have normal blood counts; the condition only rarely causes polycythemia. The presence of methemoglobin shifts the hemoglobin-O2 dissociation curve to the right, so although the transport of oxygen is diminished, the delivery of oxygen to tissues is normal. Because of the chronicity, the homozygous condition is usually compensated and, therefore, quite benign, but it may cause concern to parents of affected children, be a cosmetic embarrassment to the children, and alarm the attending physician. The cyanosis may be treated with methylene blue.

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 of age: 7.8-13.1 U/g Hb

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

Interpretation
Provides information to assist in interpretation of the test results

Cytochrome b5 reductase (methemoglobin reductase) activity in neonates (0-6 weeks) is normally 60% of the normal adult value. Adult values are attained by 2 to 3 months of age.

 

Heterozygotes have results slightly lower than the reference range. Homozygotes demonstrate little to no cytochrome b5 reductase activity and increased levels of methemoglobin.

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

Individuals who are glucose-6-phosphate dehydrogenase (G6PD) deficient are not candidates for methylene blue therapy. Administration of methylene blue to such persons will cause hemolysis or methemoglobin formation.

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

1. Agarwal AM, Prchal JT: Methemoglobinemia and other dyshemoglobinemias. In: Kaushansky K, Lichtman MA, Prchal JT, et al, eds. Williams Hematology. 9th ed. McGraw-Hill; 2016:789-800

2. Percy MJ, Barnes C, Crighton G, et al: Methemoglobin reductase deficiency: Novel mutation is associated with a disease phenotype of intermediate severity. J Pediatr Haematol Oncol. 2012;34:457-460

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

Cytochrome b5 reductase (methemoglobin reductase) catalyzes the 1,4-Dihydronicotinamide adenine dinucleotide (NADH)-linked reduction of several substrates, including ferricyanide. The activity at 37 degrees C is measured spectrophotometrically by measuring the oxidation of NADH to NAD+ at 340 nm on an automated chemistry analyzer.(Fairbanks VF, Klee GG: Biochemical aspects of hematology. In: Burtis CA, Ashwood ER, eds. Tietz Textbook of Clinical Chemistry. 3rd ed. WB Saunders Company. 1999:1647-1648; 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.

Performed weekly

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 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.

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
METR1 Cytochrome b5 Reductase, B 32703-1
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.
METRB Cytochrome b5 Reductase, B 32703-1

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

Test Update Resources

Change Type Effective Date
New Test 2021-03-22