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.

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