Medical Genetics Residency Program

Description of Clinical Genetics Rotations


Clinical Molecular Genetics Laboratory

The Clinical Molecular Laboratory at the University of Iowa is housed in the Department of Pathology and supervised by Dr. Aaron BosslerDr. Peter Nagy is supervising Molecular Genetic testing.  The laboratory currently offers molecular testing for the following disorders: 

  • Fragile X syndrome DNA testing
  • Huntington Disease DNA testing
  • Myotonic dystrophy DNA testing
  • Hemochromatosis DNA testing
  • Prader-Willi DNA testing
  • Angelman syndrome DNA testing
  • Leber Hereditary Optic Neuropathy DNA testing
  • Factor 5 and factor 2 associated thrombophilia
  • Autosomal recessive limb girdle muscular dystrophy
  • FKRP associated muscular dystrophy
  • Facioscapulohumural muscular dystrophy
  • Laminopathies
  • Bardet Biedl syndrome, type 1
  • Uniparental disomy studies

Approximately 900 tests are performed yearly.  Residents have the opportunity of observing and participating in each phase of the testing from DNA extraction to interpretation of results.  Molecular methods currently used in the laboratory include RFLP analysis, PCR, Southern blotting, dHPLC and DNA sequencing.  The laboratory also offers ABP fellowship training in the molecular genetic pathology program. 

Duration: One month


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Last modification date: Thu Jun 26 10:57:03 2008
URL: http://www.uihealthcare.com /depts/med/pediatrics/fellowships/genetics/rotations/moleculargenetics.html