Pcr/southern Blot For Huntington's Disease
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Contents |
Indications
Clinical-significance
- expansion of the trinucleotide repeat CAG within IT15 ( Huntingtin gene) correlates with age of onset in Huntington's disease.
Specimen
- whole blood ( ACD or EDTA)
- amniocytes
- chorionic villi
- store whole blood at 4 degrees C
- store at -20 degrees C or below if nucleic acids cannot be extracted immediately
More General Terms
Additional Terms
- Huntington's disease; Huntington's chorea (progressive hereditary chorea)
- Interesting Transcript 15 gene (IT15) or Huntingtin gene
References
Clinical Guide to Laboratory Tests, 3rd ed. Teitz ed., W.B. Saunders, 1995
