Hereditary spherocytosis other diagnostic studies
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Overview
Other diagnostic studies
Specialized testing for selected cases — In certain atypical cases in which further characterization of the RBC cytoskeletal/membrane proteins is needed, gel electrophoresis can be done using RBC ghosts, or DNA sequencing can be performed. These approaches may require a specialized laboratory. Identifying the deficient protein is mainly of research interest and generally does not affect management. Identifying a familial mutation may be useful in some cases for genetic testing and counseling. Resources for genetic testing are listed on the Genetic Testing Registry website.
Certain academic laboratories have a special interest or ability in performing this testing and may be contacted for further discussions. As examples, the Cincinnati Children's Molecular Genetics Laboratory can be contacted at www.cincinnatichildrens.org/moleculargenetics or by phone (513-636-4474); the Blood Disease Reference Laboratory Program at Yale University can be contacted at www.medicine.yale.edu/pathology/clinical/mdx/ or at 203-737-1349; and the Mayo Clinic's Mayo Medical Laboratories can be contacted at https://www.mayomedicallaboratories.com/customer-service/contacts.html or by phone (800-533-1710) or email (mml@mayo.edu [United States] or mliintl@mayo.edu [international]).