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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) 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 deoxyhemoglobin molecule, which 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.

Highlights

This evaluation is recommended for patients presenting with lifelong erythrocytosis, usually with a positive family history of similar symptoms. Due to the rarity of this disorder, other more common causes of erythrocytosis should be excluded prior to ordering.

 

Polycythemia vera and chronic myeloproliferative neoplasm should be excluded prior to testing. A JAK2 V617F, JAK2 exon 12, or VHL mutation should not be present.

 

This analysis is appropriate for patients with normal or elevated serum erythropoietin levels and decreased oxygen dissociation p50 values.

 

For a reflexive evaluation including p50 testing, hemoglobin electrophoresis, and mutation analysis of genes associated with hereditary erythrocytosis, order REVE / Erythrocytosis Evaluation.

Testing Algorithm

This evaluation is recommended for patients presenting with lifelong erythrocytosis, usually with a positive family history of similar symptoms. 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. A JAK2 V617F, JAK2 exon 12, or a von Hippel Lindau (VHL) mutation should not be present. Patient serum erythropoietin levels should be 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

Varies

Specimen Required

Submit only 1 of the following specimens:

 

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 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 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 Medical 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 In Process
37112 BPGM Interpretation In Process

Forms

1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An  Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.

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 (http://www.mayomedicallaboratories.com/it-mmfiles/benign-hematology-test-request-form.pdf)

Shipping Instructions

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

Advisory Information

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