SCA-7 (SPINOCEREBELLAR ATAXIA): ATXN7 GENE MUTATION

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SCA7 IS AN AUTOSOMAL DOMINANT ATAXIA WHICH IS DISTINGUISHED FROM OTHER SCAS BY MARKED RETINAL PIGMENTARY DEGENERATION LEADING TO VISUAL LOSS AND MACULAR DEGENERATION IN ADDITON TO ATAXIA. IN SCA 7 THERE IS A CAG TRINUCLEOTIDE REPEAT IN CHROMOSOME 3P14-P21.1 WHICH RESULTS IN ABNORMAL ATAXIN-7 PROTEIN. THIS EXPANDED REPEAT SIZE IS HIGHLY VARIABLE AND CORRESPONDS WITH VARIABLE SEVERITY OF SYMPTOMS.

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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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