Huntington's disease genotyping; HTT genotyping

Indications: - Huntington's disease * see huntingin & HTT gene CAG repeats Specimen: 1) whole blood (ACD or EDTA) 2) amniocytes 3) chorionic villi 4) store whole blood at 4 degrees C 5) store at -20 degrees C or below if nucleic acids cannot be extracted immediately Clinical significance: - expansion of the trinucleotide repeat CAG within IT15 (Huntingtin gene) correlates with age of onset in Huntington's disease.

Related

Huntington's disease; Huntington's chorea (progressive hereditary chorea) Interesting Transcript 15 gene (IT15) or Huntingtin gene

Specific

HTT gene CAG repeats HTT gene mutation

References

Clinical Guide to Laboratory Tests, 3rd ed. Teitz ed., W.B. Saunders, 1995