Test Code NHEP Hereditary Erythrocytosis Gene Panel, Next-Generation Sequencing, Varies
Ordering Guidance
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. More sensitive, variant-specific testing for JAK2 V617F is highly recommended prior to ordering this test. Additionally, alpha and beta chain high-oxygen affinity hemoglobin variants should be excluded prior to ordering this test panel.
See Erythrocytosis Genotyping Comparison Chart for a comparison of erythrocytosis testing options. If this test is ordered in the setting of erythrocytosis and suspicion of polycythemia vera, interpretation requires correlation with a concurrent or recent bone marrow evaluation.
Recommended Testing for JAK2 negative lifelong or familial elevated hemoglobin levels:
Tier 1: REVE2 / Erythrocytosis Evaluation, Blood
Tier 2: NHEP / Hereditary Erythrocytosis Gene Panel, Next-Generation Sequencing, Varies
This comprehensive panel (NHEP) assesses 24 genes and includes deletion/duplication analysis. It
is recommended for most patients with idiopathic erythrocytosis because hereditary erythrocytosis (HE) can be associated with novel variants with low incidence.
For an evaluation including hemoglobin electrophoresis testing and a Sanger sequencing panel of hereditary erythrocytosis variant analysis of the most common gene regions associated with hereditary erythrocytosis in an algorithmic fashion, order REVE2.
The hemoglobin genes, HBA1/HBA2 and HBB are not interrogated in this assay.
Multiple gene panels are available. For more information see Hereditary Erythrocytosis Gene Panel and Subpanel Comparison.
Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Necessary Information
1. Erythrocytosis Patient Information is strongly recommended but not required. Testing may proceed without the patient information; however, it aids in providing a more thorough interpretation. Ordering healthcare professionals are strongly encouraged to complete the form and send it with the specimen
2. If form is not provided, include the following information with the test request: clinical diagnosis, pertinent clinical history (ie, complete blood cell count results and relevant clinical notes), and differentials based on any previous bone marrow studies, clinical or morphologic presentation.
Specimen Required
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with whole blood testing. For information about testing patients who have received a bone marrow transplant, call 800-533-1710.
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 4 days
Additional Information: To ensure minimum volume and concentration of DNA are met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.
Specimen Type: Skin biopsy
Supplies: Fibroblast Biopsy Transport Media (T115)
Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin.
Specimen Volume: 4-mm punch
Specimen Stability Information: Refrigerated (preferred) < 24 hours/Ambient < 24 hours
Additional Information:
1. Specimens are preferred to be received within 24 hours of collection. Culture and extraction will be attempted for specimens received after 24 hours and will be evaluated to determine if testing may proceed.
2. A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks are required to culture fibroblasts before genetic testing can occur.
Specimen Type: Cultured fibroblast
Container/Tube: T-25 flask
Specimen Volume: 2 Flasks
Collection Instructions: Submit confluent cultured fibroblast cells from a skin biopsy from another laboratory. Cultured cells from a prenatal specimen will not be accepted.
Specimen Stability Information: Ambient (preferred) < 24 hours/Refrigerated <24 hours
Additional Information:
1. Specimens are preferred to be received within 24 hours of collection. Culture and extraction will be attempted for specimens received after 24 hours and will be evaluated to determine if testing may proceed.
2. A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks are required to culture fibroblasts before genetic testing can occur.
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 (T755) with the specimen.
Useful For
Evaluating an individual with JAK2-V617F negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit
Providing an extensive genetic evaluation for patients with a personal or family history suggestive of hereditary erythrocytosis
Comprehensive testing for patients in whom previous targeted gene variant analyses were negative for a specific hereditary erythrocytosis
Establishing a diagnosis of a hereditary erythrocytosis or related disorder, allowing for appropriate management and surveillance of disease features based on the gene involved
Testing Algorithm
For skin biopsy or cultured fibroblast specimens, fibroblast culture will be added at an additional charge. If viable cells are not obtained, the client will be notified.
Special Instructions
- Informed Consent for Genetic Testing
- Erythrocytosis Patient Information
- Erythrocytosis Evaluation Testing Algorithm
- Informed Consent for Genetic Testing (Spanish)
- Erythrocytosis Genotypic Comparison Chart
- Targeted Genes and Methodology Details for Hereditary Erythrocytosis Gene Panel
- Hereditary Erythrocytosis Gene Panel and Subpanel Comparison
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
Erythrocytosis Full Panel, NGSSpecimen Type
VariesSpecimen Minimum Volume
Whole blood: 1 mL; Skin biopsy, Cultured fibroblast: See Specimen Required
Specimen Stability Information
Specimen Type | Temperature | Time |
---|---|---|
Varies | Varies |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
28 to 42 daysPerforming Laboratory

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
81404
81405
81479
81479 (if appropriate for government payers)
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
NHEP | Erythrocytosis Full Panel, NGS | 103735-7 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
619020 | Test Description | 62364-5 |
619021 | Specimen | 31208-2 |
619022 | Source | 31208-2 |
619023 | Result Summary | 50397-9 |
619024 | Result | 82939-0 |
619025 | Interpretation | 59465-5 |
619026 | Additional Results | 82939-0 |
619027 | Resources | 99622-3 |
619028 | Additional Information | 48767-8 |
619029 | Method | 85069-3 |
619030 | Genes Analyzed | 82939-0 |
619031 | Disclaimer | 62364-5 |
619032 | Released By | 18771-6 |
Reflex Tests
Test ID | Reporting Name | Available Separately | Always Performed |
---|---|---|---|
CULFB | Fibroblast Culture for Genetic Test | Yes | No |