MOLECULAR STUDY SPINOCEREBELLAR ATAXIAS, (SCA1, SCA2, SCA3, SCA6, SCA7, SCA10), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4195

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Cleave Assay
Set Up Days:	Daily
Plazo de Entrega:	27 days
Information:
The ataxias listed above have the common characteristics of wide-based unsteady gait, lack of coordination, dysarthria, scanning and explosive speech, and hyperreflexia. If a particular disorder is suspected, gene analysis of that specific disorder can be done first. If negative, the full ataxia panel will follow. Prenatal diagnosis is available for families in which the presence of a trinucleotide repeat expansion has been demonstrated. Direct DNA analysis of the ataxia genes is recommended for symptomatic patients, with or without a family history of ataxia. DNA analysis of patients with a family history of Friedreich ataxia is recommended to determine carrier status. DNA analysis of asymptomatic patients with a positive family history of an autosomal dominant ataxia is also possible. Predictive testing of these patients, including prenatal diagnosis, introduces complex issues and risks. For this reason we recommend genetic counseling throughout the testing process.
Links:
OMIM Entry - - 601011 - CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P-Q TYPE, ALPHA-1A SUBUNIT; CACNA1A
OMIM Entry - - 601517 - ATAXIN 2; ATXN2
OMIM Entry - - 601556 - ATAXIN 1; ATXN1
OMIM Entry - - 607047 - ATAXIN 3; ATXN3
OMIM Entry - - 607640 - ATAXIN 7; ATXN7
OMIM Entry - - 611150 - ATAXIN 10; ATXN10
OMIM Entry - - 601011 - CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P-Q TYPE, ALPHA-1A SUBUNIT; CACNA1A
OMIM Entry - - 601517 - ATAXIN 2; ATXN2
OMIM Entry - - 601556 - ATAXIN 1; ATXN1
OMIM Entry - - 607047 - ATAXIN 3; ATXN3
OMIM Entry - - 607640 - ATAXIN 7; ATXN7
OMIM Entry - - 611150 - ATAXIN 10; ATXN10

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