Clinical Trials

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.