Orphanet: Diagnostik der spinozerebell�ren Ataxie Typ 1 3, 6 8, 12, 14 und 17 Gene: ATXN1 3, CACNA1A, ATXN7, ATXN8, PPP2R2B, PRKCG, TBP
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Diagnosis of spinocerebellar ataxia type 1-3, 6-8, 12, 14, 17 (ATXN1-3, CACNA1A, ATXN7, ATXN8, PPP2R2B, PRKCG, TBP genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 03/02/2012
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Last update: February 2012

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

Additional information

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

SCA (Spinocerebellar ataxias)
2014
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