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Test ID: HEMP    
Hereditary Erythrocytosis Mutations

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

Conditional

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

The definitive evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased RBC mass, elevated RBC count, hemoglobin, or hematocrit

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

This test is a third-order test and should be ordered when the patient meets the following criteria: diagnosis of erythrocytosis, JAK2 V627F is negative, and p50 values are normal.

Profile Information A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.

Test IDReporting NameAvailable SeparatelyAlways Performed
MINTMolecular InterpretationNoYes
EPOREPOR Gene, Mutation Analysis, BNoYes
HIF2AHIF2A Gene, Mutation Analysis, BNoYes
PHD2PHD2 Gene, Mutation Analysis, BNoYes

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
VHLSPVHL Full Gene AnalysisYesNo

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. Polycythemia vera should be excluded prior to testing as it is much more common than hereditary erythrocytosis, and can be present even in young patients. A JAK2 V617F or JAK2 exon 12 mutation should not be present. Additionally, p50 testing should be performed and a normal result confirmed before ordering this test. For a complete evaluation including p50 testing, hemoglobin electrophoresis testing, and hereditary erythrocytosis mutation analysis in an algorithmic fashion, order REVP / Erythrocytosis Evaluation. Please note that this test (HEMP) is a reflex test for REVP and should not be ordered if REVP is ordered.

 

See Erythrocytosis Evaluation Testing Algorithm in Special Instructions.

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

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

Hereditary Erythrocytosis Mut, B

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

EGLN1
HIF
PHD
EPAS1
EPOR
Erythrocytosis
Polycythemia