MERRF (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED RED FIBRES) MUTATION DETECTION
62 Ratings
Rs 15,600 Rs 12,000
23 % OFF
MERRF SYNDROME IS CAUSED BY A MATERNALLY-INHERITED MUTATION AT POSITION 8344 IN THE MITOCHONDRIAL GENOME IN OVER 80% OF CASES. THIS POINT MUTATION DISRUPTS THE MITOCHONDRIAL GENE FOR TRNA-LYS AND SO DISRUPTS SYNTHESIS OF PROTEINS ESSENTIAL FOR OXIDATIVE PHOSPHORYLATION. MANY GENES ARE INVOLVED WHICH INCLUDE MT-TK, MT-TL1, MT-TH, MT-TS1., MT-TS2, MT-TF ETC.
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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
REPORT ON 15TH DAY EVENING 7PM
DULY FILLED GENOMICS CLINICAL INFORMATION REQUISITION FORM IS MANDATORY.
