BPGMM - Overview: 2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis

Test Catalog

Test Name

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

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

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 Provides information that may help with selection of the correct test or proper submission of the test request

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 Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

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.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

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

Polymerase Chain Reaction (PCR) Amplification/Sanger Sequence Analysis 

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

BPGM Full Gene Sequencing

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

DPGM, 2,3-bisphosphoglycerate mutase