DRPLA (DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY) GENE ANALYSIS

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DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA) IS AN AUTOSOMAL DOMINANT SPINOCEREBELLAR DEGENERATION CAUSED BY AN EXPANSION OF A CAG REPEAT ENCODING A POLYGLUTAMINE TRACT IN THE ATROPHIN-1 PROTEIN.IT IS ALSO KNOWN AS HAW RIVER SYNDROME AND NAITO-OYANAGI DISEASE. IT IS CHARACTERIZED BY ATAXIA, CHOREOATHETOSIS, DEMENTIA, AND PSYCHIATRIC DISTURBANCE IN ADULTS AND ATAXIA, MYOCLONUS, SEIZURES, AND PROGRESSIVE INTELLECTUAL DETERIORATION IN CHILDREN.

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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 14TH DAY EVENING 7PM

DULY FILLED GENOMICS CLINICAL INFORMATION REQUISITION FORM IS MANDATORY.

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