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Test Catalog

Test ID: HEMP    
Hereditary Erythrocytosis Mutations, Whole Blood

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

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

 

This test is not intended for prenatal diagnosis.

Genetics Test Information Provides information that may help with selection of the correct genetic 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 V617F 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

Additional Tests Lists tests that are always performed, at an additional charge, with the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
BPGMMBPGM Full Gene SequencingYesYes
VHLEVHL Gene Erythrocytosis MutationsNo, (Order VHLZ)Yes

Testing Algorithm Delineates situations 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 variant should not be present. Additionally, p50 testing should be performed and a normal result confirmed before ordering this test.

 

Additional testing for BPGM full gene sequencing and VHL gene erythrocytosis variant analysis will always be performed at an additional charge.

 

See Erythrocytosis Evaluation Testing Algorithm in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) Amplification/Sanger Sequence Analysis

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

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Hereditary Erythrocytosis Mut, B

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

EGLN1
HIF
PHD
EPAS1
EPOR
Erythrocytosis
Polycythemia