SCA-1 (SPINOCEREBELLAR ATAXIA): ATXN1 GENE MUTATION
129 Ratings
Rs 3,375 Rs 2,500
26 % OFF
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.
