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  • DRPLA (DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY) GENE ANALYSIS

DRPLA (DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY) GENE ANALYSIS

Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive disorder of ataxia, myoclonus, epilepsy, and progressive intellectual deterioration in children and ataxia, choreoathetosis, and dementia or character changes in adults. DRPLA is caused by a heterozygous expanded trinucleotide repeat (CAG) in the ATN1 gene on chromosome 12p13. Onset ranges from before age one year to age 72 years; mean age of onset is 31.5 years. The clinical presentation varies depending on the age of onset. The cardinal features in adults are ataxia, choreoathetosis, and dementia. Cardinal features in children are progressive intellectual deterioration, behavioral changes, myoclonus, and epilepsy.

  • Test Type:
  • Pre-test Information:
    It is mandatory to send a Signed Genomics Clinical information form (Form 20) with the specimen.
  • Report Delivery:
    Sample by Mon 11 am; Report Friday
  • Components:
    0
  • Clinical Form:

Sample Report