LabPLUS is part of Auckland District Health Board
and provides medical laboratory testing
| Services |
MOLECULAR GENETICS TESTS - HUNTINGTON DISEASE |
| Background: Huntington disease is an inherited autosomal dominant disease that gives rise to progressive selective (localised) neural cell death associated with choreic movements and dementia. Increases in the length of a CAG triplet repeat, called 'Huntington' located on Chromosome 4p16.3 are associated with the clinical disease. There is an inverse relationship between repeat length and age of onset, the higher in frequency of juvenile onset cases arising from paternal transmission. The normal range of repeat sizes is between 5-30 whereas 30-36 is considered an intermediate range where the risk of developing clinical disease is undetermined. Those affected usually have allele size greater than 37 repeats. Analysis:
For pre-symptomatic testing and prenatal diagnosis the patient must have undergone genetic counseling through the established national protocol for Huntington Disease Testing. Speciment Requirements: Blood: 3 x 4.0mL whole blood into EDTA tubes . Invert several times to mix. Forward within 24-48 hours at ambient temperature. Paediatric Samples: Minimum of 3mL whole blood in EDTA tubes. Prenatal Samples:
Paraffin blocks of tissue are also acceptable. The tissue sample should not have had prolonged immersion in formalin before embedding. NOTE:
6 weeks once sample is received. Cost of test: HD - $438.75 Note: Prices excludes GST (12.5%) and may change without notice. Please click on a link below to view information about another specific test.
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