SCA-8 (SPINOCEREBELLAR ATAXIA): ATXN8OS & ATXN8 GENE MUTATION

SCA-8 (SPINOCEREBELLAR ATAXIA): ATXN8OS & ATXN8 GENE MUTATION

152 Ratings

Rs 7,260 Rs 5,500

24 % OFF

SCA8 IS AN AUTOSOMAL DOMINANT SLOWLY PROGRESSIVE ATAXIA WITH DYSARTHRIA. IT USUALLY MANIFESTS AT 40 YEARS OF AGE WITH A RANGE FROM 20 TO 65 YEARS. OTHER FEATURES INCLUDE NYSTAGMUS, LEG SPASTICITY & REDUCED VIBRATORY SENSATION. SCA8 IS CAUSED BY BIDIRECTIONAL TRANSCRIPTION AT THE SCA8 LOCUS ON CHROMOSOME 13Q21 INVOLVING BOTH AN EXPANDED CTG TRINUCLEOTIDE REPEAT IN THE ATXN8OS GENE AND THE COMPLEMENTARY CAG REPEAT IN THE ATXN8 GENE (13Q21).

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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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