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2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis, Varies
MessageSendouts, Mayo test code: BPGMM
Test Code
LAB1238208
Alias/See Also
BPGMM
DPGM
2,3-bisphosphoglycerate mutase
DPGM
2,3-bisphosphoglycerate mutase
CPT Codes
81479
Preferred Specimen
4 mL whole blood from lavedner EDTA tube.
Minimum Volume
1 mL
Other Acceptable Specimens
Yellow ACD or green sodium heparin tube
Instructions
1. Invert several times to mix blood.
2. Send whole blood specimen in the original tube. Do not aliquot
2. Send whole blood specimen in the original tube. Do not aliquot
Transport Container
Original tube
Transport Temperature
Ambient
Specimen Stability
Ambient: 14 days
Refrigerate: 30 days
Refrigerate: 30 days
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Bone marrow
Paraffin-embedded tissue
Frozen tissue
Paraffin-embedded bone marrow aspirate clot
Methanol-acetic acid (MAA)-fixed pellets
Moderately to severely clotted
Paraffin-embedded tissue
Frozen tissue
Paraffin-embedded bone marrow aspirate clot
Methanol-acetic acid (MAA)-fixed pellets
Moderately to severely clotted
Methodology
Polymerase Chain Reaction (PCR)/Sanger Sequencing
Setup Schedule
Monday through Friday
Report Available
10 to 25 days
Limitations
This test does not detect large deletions and duplications in BPGM.
Polycythemia vera and acquired causes of erythrocytosis should be excluded before ordering this test.
Certain genetic alterations have no clinical manifestations and, in essence, are clinically benign. Correlation with all relevant clinical information is necessary to provide appropriate patient care.
Polycythemia vera and acquired causes of erythrocytosis should be excluded before ordering this test.
Certain genetic alterations have no clinical manifestations and, in essence, are clinically benign. Correlation with all relevant clinical information is necessary to provide appropriate patient care.
Reference Range
Included with report
Clinical Significance
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.
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.
Performing Laboratory
Mayo Clinic Laboratories, Rochester, Minnesota
Additional Information
2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis, Varies
