Whole Exome Sequencing for Diagnostic Odyssey Cases Evaluated at the Individualized Medicine Clinic

Overview

Información sobre este estudio

The purpose of this study is to test a new set of technologies called Next Generation Sequencing (NGS) that may help identify possible genetic reasons for your medical condition. NGS is a procedure that looks at all of your genes (the genetic material you have inherited from your parents) in different ways. Right now, clinical NGS is only done in outside clinical labs. In this study, Mayo Clinic is developing procedures to perform and interpret NGS in its own clinical labs. We also want to store samples and genetic information for future research.

Elegibilidad para la participación

Los requisitos de elegibilidad de los participantes incluyen la edad, el sexo, el tipo y el estadio de la enfermedad, y los problemas de salud o tratamientos previos. Las pautas difieren de un estudio a otro e identifican quiénes pueden o no pueden participar. No hay garantía de que cada persona elegible que desee participar en un ensayo se inscribirá. Comunícate con el equipo del estudio para analizar la elegibilidad del estudio y la posible participación.

Inclusion Criteria

  • Patient must have evidence of a genetic condition or a suspected genomic disorder for which previous testing has not provided a diagnosis, or be a biological family member of such a patient.
  • Patient/family member is willing to undergo session(s) with a genetic counselor (GC).
  • Patient must understand and provide written informed consent and HIPAA authorization prior to initiation of any study-specific procedures. For a pediatric patient and patient without capacity to consent for him/herself, parents or legal guardians must understand and provide written informed consent and HIPAA authorization prior to initiation of any study-specific procedures.
  • Participants of any age are eligible to participate.
  • Pregnant women may participate in this research study.Should research results be returned that would have implications for offspring the participant will be offered genetic counseling.

     Exclusion Criteria

  • Patient who has an uncontrolled concurrent illness including psychiatric illness, or situations that would limit compliance with the study requirements or the ability to willingly give written informed consent, and who does not have a legal guardian who will take responsibility for ensuring compliance with study requirements and can provide consent on his/her behalf.
  • Family member participants will not be eligible for research study if the proband/surrogate declines participation.

 

Sedes participantes de Mayo Clinic

Los estatus de los estudios cambian con frecuencia. Comunícate con el equipo del estudio para obtener la información más actualizada acerca de la posibilidad de participar.

Sede de Mayo Clinic Estatus Contacto

Rochester, Minn.

Investigador principal de Mayo Clinic

Konstantinos Lazaridis, M.D.

Cerrado para la inscripción

Contact information:

Center for Individualized Medicine

(507)293-0792

Scottsdale/Phoenix, Ariz.

Investigador principal de Mayo Clinic

Radhika Dhamija, M.B.B.S.

Cerrado para la inscripción

Contact information:

Dana Alexander

(480) 342-5514

Alexander.Dana1@mayo.edu

More information

Publicaciones

Publications are currently not available
.
CLS-20492887

Mayo Clinic Footer