Hereditary spherocytosis other diagnostic studies
|
Hereditary spherocytosis Microchapters |
|
Differentiating Hereditary spherocytosis from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Hereditary spherocytosis other diagnostic studies On the Web |
|
American Roentgen Ray Society Images of Hereditary spherocytosis other diagnostic studies |
|
Hereditary spherocytosis other diagnostic studies in the news |
|
Risk calculators and risk factors for Hereditary spherocytosis other diagnostic studies |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
Please help WikiDoc by adding content here. It's easy! Click here to learn about editing.
Overview
- 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.
Other diagnostic studies
- Specialized testing for selected cases — 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]).