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Test Code 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.

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.

Method Name

Polymerase Chain Reaction (PCR)/Sanger Sequencing

Reporting Name

BPGM Full Gene Sequencing

Specimen Type

Varies


Ordering 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

Reject Due To

Gross hemolysis Reject
Bone marrow
Paraffin-embedded tissue
Frozen tissue
Paraffin-embedded bone marrow aspirate clot
Methanol-acetic acid (MAA)-fixed pellets
Moderately to severely clotted		 Reject

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Friday

Report Available

10 to 25 days

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. 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

Yes

Forms

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.