EPISODIC ATAXIA COMPREHENSIVE PROFILE, HOTSPOT

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EPISODIC ATAXIA (EA) IS AN AUTOSOMAL DOMINANT NEUROLOGIC CONDITION AFFECTING LESS THAN 1 IN 100,000 PEOPLE. IT IS CHARACTERIZED BY SPELLS OF INCOORDINATION AND IMBALANCE (ATAXIA) WITH OR WITHOUT MYOKYMIA. TYPE 2 EPISODIC ATAXIA (EA2) IS CHARACTERIZED BY ACETAZOLAMIDE-RESPONSIVE ATTACKS OF ATAXIA WITH OR WITHOUT MIGRAINE. PATIENTS WITH EA2 MAY ALSO PRESENT WITH PROGRESSIVE CEREBELLAR ATROPHY, NYSTAGMUS, VERTIGO, VISUAL DISTURBANCES AND DYSARTHRIA. THESE SYMPTOMS LAST FROM HOURS TO DAYS, IN CONTRAST WITH EA1, WHICH LASTS FROM SECONDS TO MINUTES. LIKE EA1, ATTACKS CAN BE PRECIPITATED BY EMOTIONAL OR PHYSICAL STRESS, BUT ALSO BY COFFEE AND ALCOHOL.

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4 ML (2 ML MIN.) WHOLE BLOOD FROM 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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