Monday, November 26, 2012

MOLECULAR STUDY - ATAXIA WITH OCULOMOTOR APRAXIA TYPE 2 (SETX) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4086

Sample:
Whole blood EDTA (minimum 10 ml)
Conservation:
Refrigerated
Method:
Sequencing Method
Set Up Days:
Daily
Plazo de Entrega:
50 days
Information:
Ataxia-oculomotor apraxia-2 (AOA2) is a form of autosomal recessive cerebellar ataxia, a clinically and genetically heterogeneous group of neurodegenerative disorders. However, because oculomotor apraxia is only an occasional feature of AOA2, Koenig (2001) urged that it not be referred to as a form of AOA. Duquette et al. (2005) also emphasized that oculomotor apraxia is not a universal finding in this disorder and suggested the name 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy-2' (SCAN2) to distinguish it from SCAN1.
Links:

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