Home
HelpTest ID BPGMM 2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis, Varies
Useful For
Diagnosing 2,3-bisphosphoglycerate mutase deficiency in individuals with lifelong, unexplained erythrocytosis
Identifying genetic variant carriers in family members of an affected individual for the purposes of preconception genetic counseling
This test is not intended for prenatal diagnosis.
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. Variations in this gene that result in a deficiency of 2,3-BPG can cause hereditary erythrocytosis.
This test can detect variants 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- bisphosphoglycerate 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; for more information see Erythrocytosis Evaluation Testing Algorithm .
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 variant should not be present. Patient serum erythropoietin levels are typically normal or elevated.
Special Instructions
Method Name
Polymerase Chain Reaction (PCR)/Sanger Sequencing
Reporting Name
BPGM Full Gene SequencingSpecimen Type
VariesOrdering Guidance
This test detects variants identifiable by Sanger sequencing in the BPGM gene only. For a reflexive evaluation including hemoglobin electrophoresis and variant analysis of genes associated with hereditary erythrocytosis, order REVE2 / Erythrocytosis Evaluation, Blood.
This test does not provide a serum erythropoietin (EPO) level. If EPO testing is desired, order EPO / Erythropoietin, Serum.
Necessary Information
Erythrocytosis Patient Information (T694) is strongly recommended, but not required, to be filled out and sent with the specimen. This information aids in providing a more thorough interpretation of test results. Ordering providers are strongly encouraged to complete the form and send it with the specimen.
Specimen Required
Submit only 1 of the following specimens:
Patient Preparation: Bone marrow transplants preclude accurate germline and genetic variant analysis. Inform the laboratory if this patient has undergone bone marrow transplantation. On rare occasions transfusion of blood products can preclude accurate genetic variant analysis, and results should be interpreted with caution if performed after recent transfusion (within 4 months).
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD), green top (sodium heparin)
Specimen Volume: 4 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in the original tube. Do not aliquot
Specimen Stability Information: Ambient 14 days (preferred)/Refrigerate 30 days
Specimen Type: Extracted DNA from whole blood
Container/Tube: 1.5 to 2 mL tube
Specimen Volume: Entire specimen
Collection Instructions:
1. Label specimen as extracted DNA and source of specimen
2. Provide volume and concentration of the DNA
Specimen Stability Information: Frozen (preferred)/Refrigerate/Ambient
Specimen Minimum Volume
Blood: 1 mL; Extracted DNA: 50 mcL at 50 ng/mcL concentration
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reference Values
An interpretive report will be provided.
Day(s) Performed
Monday through Friday
Report Available
10 to 25 daysPerforming 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. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81479
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| BPGMM | BPGM Full Gene Sequencing | 94190-6 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 37111 | BPGM Gene Sequencing Result | No LOINC Needed |
| 37112 | BPGM Interpretation | 69047-9 |
NY State Approved
YesForms
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:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Erythrocytosis Patient Information (T694)
3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request Form (T755) with the specimen.