SCA-12 (SPINOCEREBELLAR ATAXIA): PPP2R2B GENE MUTATION

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SCA12 IS AN AUTOSOMAL DOMINANT ATAXIA WHICH IS A PROGRESSIVE, DEGENERATIVE GENETIC DISEASE WITH MULTIPLE TYPES. IN SCA12 THERE IS A CAG TRINUCLEOTIDE REPEAT IN CHROMOSOME 5Q32.

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4 ML (2 ML MIN.) WHOLE BLOOD IN 1 LAVENDER TOP (EDTA) TUBE. SHIP REFRIGERATED. DO NOT FREEZE. DULY FILLED GENOMICS CLINICAL INFORMATION REQUISITION FORM IS MANDATORY.

PCR, FRAGMENT ANALYSIS

REPORT ON 15TH DAY EVENING 7PM

DULY FILLED GENOMICS CLINICAL INFORMATION REQUISITION FORM IS MANDATORY.

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