SCA-1 (SPINOCEREBELLAR ATAXIA): ATXN1 GENE MUTATION

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Rs 3,375 Rs 2,500

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SCA1 IS AN AUTOSOMAL DOMINANT ATAXIA WHICH MANIFESTS IN EARLY OR MIDDLE ADULT LIFE. IT IS CHARACTERIZED BY PROGRESSIVE CEREBELLAR ATAXIA OF TRUNK & LIMBS, GAIT IMPAIRMENT, SLOW VOLUNTARY MOVEMENTS, SCANNING SPEECH, TREMORS & NYSTAGMOID EYE MOVEMENTS. IN SCA 1 THERE IS A CAG TRINUCLEOTIDE REPEAT IN CHROMOSOME 6P WHICH GETS AFFECTED & RESULTS IN ABNORMAL ATAXIN-1 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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