SMA OF ALL TYPES IS ASSOCIATED WITH HOMOZYGOUS MUTATIONS IN THE SURVIVAL MOTOR NEURON 1 GENE (SMN1). THIS TEST DETECTS HOMOZYGOUS DELETION OF SMN1 EXON 7 AND OR EXON 8 WHICH ACCOUNTS FOR 95% OF SMA.
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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.
MLPA
REPORT ON 15TH DAY EVENING 7PM
DULY FILLED GENOMICS CLINICAL INFORMATION REQUISITION FORM IS MANDATORY.