Hereditary Erythrocytosis Gene Panel, Next-Generation Sequencing, Varies

Casandra

Casandra Test Code MC21741Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID NHEPCPT Codes 81404, 81405, 81479

Hereditary Erythrocytosis Gene Panel, Next-Generation Sequencing, Varies

Clinical Use

Use

Evaluating individuals with JAK2-V617F negative erythrocytosis associated with lifelong increased red blood cell mass, elevated red blood cell count, hemoglobin, or hematocrit. Provides 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. Establishes a diagnosis of hereditary erythrocytosis or related disorders, allowing for appropriate management and surveillance based on the gene involved.

Special Instructions

Polycythemia vera should be excluded prior to testing as it is more common than hereditary erythrocytosis. A JAK2 V617F or JAK2 exon 12 variant should not be present. More sensitive, variant-specific testing for JAK2 V617F is recommended prior to ordering this test. A previous bone marrow transplant from an allogenic donor will interfere with whole blood testing.

Limitations

Next-generation sequencing may not detect all types of genomic variants. False-negative or false-positive results can occur. Depth of coverage may vary, and areas with high guanine-cytosine content and repetitive sequences may have technical limitations. Does not differentiate between somatic and germline variants. Balanced structural rearrangements may not be detected. Not designed to detect low levels of mosaicism. If a specific clinical disorder is suspected, other evaluation methods should be considered.

Test Details

New York Approved