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Test ID BPGMM 2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis

Useful For

Diagnosis of 2,3-bisphosphoglycerate mutase deficiency in individuals with lifelong, unexplained erythrocytosis


Identifying mutation carriers in family members of an affected individual for the purposes of preconception genetic counseling

Genetics Test Information

The BPGM gene encodes the enzyme 2,3-bisphosphoglycerate mutase (BPGM) that catalyzes the conversion of 1,3-bisphosphoglycerate to 2,3-bisphosphoglycerate (2,3-BPG), also known as 2,3-diphosphoglycerate (2,3-DPG), through the Luebering-Rapoport pathway. 2,3-BPG is a small molecule generated from glycolysis and is present in large amounts in red blood cells. It functions to stabilize the hemoglobin molecule and facilitates oxygen unloading at tissue sites. Therefore, 2,3-BPG concentrations affect the oxygen affinity of hemoglobin. Mutations in this gene that result in a deficiency of 2,3-BPG can cause hereditary erythrocytosis.


This test can detect mutations in BPGM that are associated with unexplained lifelong erythrocytosis due to bisphosphoglycerate mutase deficiency.

Testing Algorithm

This evaluation is recommended for patients presenting with lifelong elevation in hemoglobin or hematocrit, usually with a positive family history of similar symptoms. Reported cases of 2,3-BPG deficiency have been associated with decreased p50 values (left-shifted oxygen-dissociation curve). Due to the rarity of this disorder, other more common causes of erythrocytosis should be excluded prior to ordering; see Erythrocytosis Evaluation Testing Algorithm in Special Instructions.


Polycythemia vera and chronic myeloproliferative neoplasm should be excluded prior to testing as they are more common causes of elevated hemoglobin values. A JAK2 V617F or JAK2 exon 12 mutation should not be present. Patient serum erythropoietin levels are typically normal or elevated and oxygen dissociation p50 values decreased in test candidates. For a reflexive evaluation including p50 testing, hemoglobin electrophoresis, and mutation analysis of genes associated with hereditary erythrocytosis, order REVE / Erythrocytosis Evaluation.

Method Name

Polymerase Chain Reaction (PCR) Amplification/Sanger Sequence Analysis 

Reporting Name

BPGM Full Gene Sequencing

Specimen Type


Advisory Information

This test detects mutations identifiable by Sanger sequencing in the BPGM gene only. For a complete evaluation in an algorithmic fashion, order REVE/ Erythrocytosis Evaluation.


This test does not provide a serum erythropoietin (Epo) level. If Epo testing is desired, see EPO / Erythropoietin (EPO), Serum.

Shipping Instructions

Specimens must arrive within 7 days (168 hours) of collection.

Specimen Required

Submit only 1 of the following specimens:


Patient Preparation: Bone marrow transplants preclude accurate germline and mutation analysis. Please inform the laboratory if this patient has undergone bone marrow transplantation.  On rare occasions transfusion of blood products can preclude accurate mutation analysis and results should be interpreted with caution if performed after recent transfusion (within 4 months).


Specimen Type: Peripheral blood

Collection Container/Tube:

Preferred: EDTA (lavender top)

Acceptable: ACD (yellow top), Heparin (green top)

Specimen Volume: 4 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in the original tube.

Specimen Stability: Ambient (preferred)/Refrigerate


Specimen Type: Extracted DNA from whole blood

Container/Tube: 1.5- to 2-mL tube

Specimen Volume: Entire specimen

Collection Instructions: Label specimen as extracted DNA from blood and provide indication of volume and concentration of the DNA

Specimen Stability: Frozen (preferred)/Refrigerate/Ambient

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies 7 days

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Monday through Friday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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 U.S. Food and Drug Administration.

CPT Code Information

81479-Unlisted Molecular Pathology procedure

LOINC Code Information

Test ID Test Order Name Order LOINC Value
BPGMM BPGM Full Gene Sequencing In Process


Result ID Test Result Name Result LOINC Value
37111 BPGM Gene Sequencing Result No LOINC Needed
37112 BPGM Interpretation 69047-9


1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Erythrocytosis Patient Information (T694) in Special Instructions

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