SCA-11 (SPINOCEREBELLAR ATAXIA): TTBK2 GENE MUTATION

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SCA11 IS A SUBTYPE OF AUTOSOMAL DOMINANT CEREBELLAR ATAXIA TYPE III (ADCA TYPE III) CHARACTERIZED BY THE EARLY-ONSET OF CEREBELLAR SIGNS, EYE MOVEMENT ABNORMALITIES AND PYRAMIDAL SIGNS. ADCA III IS AN AUTOSOMAL DOMINANT CEREBELLAR ATAXIA, RELATIVELY BENIGN, LATE-ONSET, SLOWLY PROGRESSIVE NEUROLOGIC DISORDER CHARACTERIZED BY AN UNCOMPLICATED CEREBELLAR SYNDROME. SCA11 IS CHARACTERIZED BY PROGRESSIVE CEREBELLAR ATAXIA AND ABNORMAL EYE SIGNS (JERKY PURSUIT, HORIZONTAL AND VERTICAL NYSTAGMUS). PYRAMIDAL FEATURES, PERIPHERAL NEUROPATHY AND DYSTONIA ARE SEEN OCCASIONALLY. THIS TEST TARGETS THE EXON 12 OF TTBK2 GENE.

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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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