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:
OMIM Entry - # 606002 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1
Orphanet- Spinocerebellar ataxia with axonal neuropathy type 2 Ataxia oculomotor apraxia type 2
OMIM Entry - - 608465 - SENATAXIN; SETX

   Find the record of the test by clicking here