SCA-14 (SPINOCEREBELLAR ATAXIA): PRKCG GENE MUTATION

68 Ratings

Rs 7,150 Rs 5,500

23 % OFF

SCA14 IS A RARE MILD SUBTYPE OF TYPE I AUTOSOMAL DOMINANT CEREBELLAR ATAXIA (ADCA TYPE I) . SCA14 IS CHARACTERIZED BY SLOWLY PROGRESSIVE CEREBELLAR ATAXIA, DYSARTHRIA, AND NYSTAGMUS. AXIAL MYOCLONUS, COGNITIVE IMPAIRMENT, TREMOR AND SENSORY LOSS MAY ALSO BE OBSERVED. PARKINSONIAN FEATURES INCLUDING RIGIDITY AND TREMOR HAVE BEEN DESCRIBED IN SOME FAMILIES. THIS TEST DETECTS MUTATIONS IN EXON 4 WHICH IS A MUTATION HOTSPOT IN SCA14.

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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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