Clinical Trials

Inclusion Criteria:

Both of the following criteria must be met for inclusion in this study OR Family members who are clinically unaffected or affected with the same suspected disorder as a patient with VUS:

• Clinically suspected diagnosis of a genetic disorder.
• All genetic testing performed to date has been equivocal.
• Examples of “equivocal” results include:
  • A variant or variants of uncertain significance identified in a gene or genes of interest; borderline hypo- or hypermethylation on a previous targeted methylation assay such as methylation-sensitive MLPA; borderline droplet count or copy number detected by ddPCR or qPCR, respectively;
  • 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); a pathogenic or likely pathogenic finding that is inconsistent with the current clinical phenotype of the patient  (i.e., the patient’s presentation is still unsolved) or inconsistent with the currently known mode of inheritance for a particular genetic disorder.

Exclusion Criteria:

• Blood transfusion within the past 2 weeks.
• Previous bone marrow transplant.
• Chemotherapy or radiation therapy within the past 6 months.

Eligibility last updated 3/7/22. Questions regarding updates should be directed to the study team contact.