SCA-2 (SPINOCEREBELLAR ATAXIA): ATXN2 GENE MUTATION

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SCA2 IS AN AUTOSOMAL DOMINANT ATAXIA WHICH IS MAINLY SEEN IN PATIENTS FROM INDIA & CUBA. IT IS A UNIQUE FORM OF CEREBELLAR DEGENERATIVE DISEASE WHICH CAN ARISE IN A WIDE AGE RANGE OF 2 TO 65 YEARS. THE SYMPTOMS ARE SIMILAR TO SCA1 BUT IN ADDITION , THE PATIENT ALSO HAS OPTIC DISC PALLOR, RETINAL DEGENERATION & PARKINSONIAN RIGIDITY. IN SCA 2 THERE IS A CAG TRINUCLEOTIDE REPEAT IN CHROMOSOME 12Q WHICH RESULTS IN ABNORMAL ATAXIN-2 PROTEIN PRODUCTION.

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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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