Huntington's disease genotyping; HTT genotyping

Indications

• Huntington's disease

* see huntingin & HTT gene CAG repeats

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

• genotyping (allele testing)

More specific terms

• HTT gene CAG repeats
• HTT gene mutation

Additional terms

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