A Study to Analyze Whole Methylome for Identification of Epigenetic Variations in Undiagnosed Congenital Disorders


About this study

The purpose of this study is to analyze genome-wide methylation patterns in DNA from patients with suspected hereditary disorders but for whom all previous genetic testing has been negative and/or equivocal.

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:      

Both of the following criteria must be met for inclusion in this study:

  • Clinically documented suspected diagnosis of a genetic disorder; 
  • All genetic testing performed to date has been negative and/or equivocal.  Examples of “equivocal” results include: borderline hypo- or hypermethylation on a previous targeted methylation assay such as methylation-sensitive MLPA, or a single mutation identified in a gene of interest, such as via Sanger sequencing, next generation sequencing, or chromosomal microarray, associated with an autosomal recessive disorder in which two mutations must be present in order to be causative (i.e., no second mutation was identified).   

Exclusion Criteria:     

Any of the following:

  • Previously positive genetic testing yielding a known diagnosis;
  • Blood transfusion within the past 4 months;
  • Previous bone marrow transplant; 
  • Chemotherapy or radiation therapy within the past 6 months; 
  • Currently pregnant.

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

Linda Hasadsri, M.D., Ph.D.

Open for enrollment

Contact information:

Mohamed Ibrahim



More information


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