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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Free and On Schedule Sample Collection
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24/7 Service
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Quick and Accurate Reports
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.
