GTR Test Accession:
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GTR000551614.8
Last updated in GTR:
2025-09-16
View version history
GTR000551614.8,
last updated:
2025-09-16
GTR000551614.7,
last updated:
2025-04-11
GTR000551614.6,
last updated:
2022-05-12
GTR000551614.5,
last updated:
2021-06-08
GTR000551614.4,
last updated:
2021-05-11
GTR000551614.3,
last updated:
2021-05-04
GTR000551614.2,
last updated:
2021-04-28
GTR000551614.1,
registered in GTR:
2020-06-16
Last annual review date for the lab: 2025-05-29
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At a Glance
Test purpose:
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Diagnosis;
Risk Assessment
Conditions (2):
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Familial erythrocytosis;
Erythrocytosis
Genes (1):
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BPGM (7q33)
Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Diagnosing 2,3-bisphosphoglycerate mutase deficiency in individuals with lifelong, unexplained erythrocytosis …
Clinical validity:
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Not provided
Clinical utility:
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Avoidance of invasive testing;
Establish or confirm diagnosis
Ordering Information
Offered by:
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Test short name:
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BPGMM
Specimen Source:
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- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Dentist
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Public Health Mandate
- Registered Nurse
Lab contact:
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Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order:
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https://www.mayocliniclabs.com/test-catalog/overview/63208#Specimen
Order URL
Order URL
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Test strategy:
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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. …
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Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Conditions
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Total conditions: 2
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 1
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Risk Assessment
Clinical utility:
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Avoidance of invasive testing
Establish or confirm diagnosis
View citations (1)
- Petousi N, Copley RR, Lappin TR, Haggan SE, Bento CM, Cario H, Percy MJ, , Ratcliffe PJ, Robbins PA, McMullin MF. Erythrocytosis associated with a novel missense mutation in the BPGM gene. Haematologica. 2014;99(10):e201-4. doi:10.3324/haematol.2014.109306. Epub 2014 Jul 11. PMID: 25015942.
Establish or confirm diagnosis
View citations (1)
- Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency. Lemarchandel V, et al. Blood. 1992;80(10):2643-9. PMID: 1421379.
Target population:
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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.
View citations (3)
- Formate assay in body fluids: application in methanol poisoning. Makar AB, et al. Biochem Med. 1975;13(2):117-26. doi:10.1016/0006-2944(75)90147-7. PMID: 1. Petousi N, Copley RR, Lappin TR, et al: Erythrocytosis associated with a novel missense mutation in the BPGM gene. Haematologica. 2014 Oct;99(10):e201-e204.
- Delineation of the intimate details of the backbone conformation of pyridine nucleotide coenzymes in aqueous solution. Bose KS, et al. Biochem Biophys Res Commun. 1975;66(4):1173-9. doi:10.1016/0006-291x(75)90482-9. PMID: 2. Hoyer JD, Allen SL, Beutler E, Kubik K, West C, Fairbanks VF: Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. Am J Hematol. 2004 Apr;75(4):205-208.
- Metal substitutions incarbonic anhydrase: a halide ion probe study. Smith RJ, et al. Biochem Biophys Res Commun. 1975;66(4):1281-6. doi:10.1016/0006-291x(75)90498-2. PMID: 3. Rosa R, Prehu MO, Beuzard Y, Rosa J: The first case of a complete deficiency of diphosphoglycerate mutase in human erythrocytes. J Clin Invest. 1978 Nov;62(5):907-915.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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All detected variants are evaluated according to the most recent American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
All detected variants are evaluated according to the most recent American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes. Contact lab for details
Yes. Contact lab for details
Will the lab re-contact the ordering physician if variant interpretation changes?
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No. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
No. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Recommended fields not provided:
Clinical validity,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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DNA is extracted from whole peripheral blood and amplified in 4 separate polymerase chain reactions (PCR) to cover BPGM exons 1 through 4. PCR products are then sequenced by the Sanger sequencing method and analyzed with sequencing software. Patient sequence results are compared with the genomic reference sequences and the …
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Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Clinical sensitivity on 31 samples was found to be 100%. All positive control samples that were tested correctly tested positive (10/10). Clinical specificity was found to be 100% (21/21)
Assay limitations:
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1) This test does not detect large deletions and duplications in BPGM. 2) Polycythemia vera and acquired causes of erythrocytosis should be excluded before ordering this evaluation. The p50 value should be normal. 3) This test is not intended for prenatal diagnosis. 4) Blood transfusions prior to having blood drawn …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
Method used for proficiency testing: Help
Alternative Assessment
No
Method used for proficiency testing: Help
Alternative Assessment
VUS:
Software used to interpret novel variations
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Variants may be analyzed using any combination of the following: Alamut, REVEL, Polyphen-2, SIFT, AGVGD, MutationTaster, SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, SpliceAI, gene-specific online databases, ISCA, UCSC Genome Browser
Laboratory's policy on reporting novel variations Help
All novel variants and copy number variants are evaluated for potential pathogenicity and included in the written report, accordingly.
Variants may be analyzed using any combination of the following: Alamut, REVEL, Polyphen-2, SIFT, AGVGD, MutationTaster, SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, SpliceAI, gene-specific online databases, ISCA, UCSC Genome Browser
Laboratory's policy on reporting novel variations Help
All novel variants and copy number variants are evaluated for potential pathogenicity and included in the written report, accordingly.
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Is proficiency testing performed for this test,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Reviews:
Clinical resources:
Consumer resources:
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.