SCA-5 (SPINOCEREBELLAR ATAXIA): SPTBN2 GENE MUTATION

SCA-5 (SPINOCEREBELLAR ATAXIA): SPTBN2 GENE MUTATION

60 Ratings

Rs 7,260 Rs 5,500

24 % OFF

CEREBELLAR ATAXIA HAVE VARIABLE INVOLVEMENT OF THE BRAINSTEM AND SPINAL CORD, AND THE CLINICAL FEATURES OF THE DISORDERS ARE CAUSED BY DEGENERATION OF THE CEREBELLUM AND ITS AFFERENT AND EFFERENT CONNECTIONS, WHICH INVOLVE THE BRAINSTEM AND SPINAL CORD. SPINOCEREBELLAR ATAXIA-5 (SCA5) IS CAUSED BY HETEROZYGOUS MUTATION IN THE SPTBN2 GENE ON CHROMOSOME 11Q13. THIS TEST IS SPECIFIC FOR SPTBN2 GENE HOTSPOT (EXON 12) LOCUS.

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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, SEQUENCING

REPORT ON 15TH DAY EVENING 7PM

DULY FILLED GENOMICS CLINICAL INFORMATION REQUISITION FORM IS MANDATORY.

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