MITOCHONDRIAL ENCEPHALOMYOPATHY, LACTIC ACIDOSIS AND STROKE-LIKE EPISODES (MELAS) MUTATION DETECTION

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THIS TEST IS USEFUL FOR ELUCIDATION OF MITOCHONDRIAL MUTATIONS LINKED TO THE MITOCHONDRIAL DISEASE MELAS. SYMPTOMS TYPICALLY BEGIN IN CHILDHOOD AND MAY INCLUDE MUSCLE WEAKNESS AND PAIN, RECURRENT HEADACHES, LOSS OF APPETITE, VOMITING AND SEIZURES. MOST AFFECTED INDIVIDUALS EXPERIENCE STROKE-LIKE EPISODES BEGINNING BEFORE AGE 40. MELAS CAN BE INHERITED FROM THE MOTHER AS ONLY FEMALES PASS MITOCHONDRIAL DNA TO THEIR CHILDREN. RARELY MELAS CAN RESULT FROM A NEW MUTATION NOT INHERITED FROM THE MOTHER.

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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 4TH DAY EVENING 7PM

DULY FILLED GENOMICS CLINICAL INFORMATION REQUISITION FORM IS MANDATORY.

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