A Study of Whole Genome Sequencing in Hereditary Erythrocytosis for New Diagnostic Test Development

Overview

About this study

The purpose of this study is to use whole genome sequencing to identify more causal pathways and variants responsible for hereditary erythrocytosis. These results will be used to develop improved diagnostic testing for the disease.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:     

  • Will be negative for:
    • JAK2 V617F allele;
    • VHL;
    • EPOR(exon 8);
    • HIF2A(exon 12);
    • PHD2(exons 1-5);
    • HBB;
    • HBA1/HBA2 full gene.
  • Family history of hereditary erythrocytosis.

Exclusion Criteria:     

  • Any of the following identified in the medical history:
    • Sleep apnea;
    • Obesity;
    • Acquired erythrocytosis.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Jennifer Oliveira, M.D.

Closed-enrolling by invitation

What is this? (?)
"Close"
Not open to everyone who meets the eligibility criteria, but only those invited to participate by the study team.

Contact information:

Molly Hein

(507)538-4268

Hein.Molly@mayo.edu

More information

Publications

Publications are currently not available