This test is designed to detect carriers of spinal muscular atrophy. Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder characterized by muscle weakness and atrophy resulting from progressive loss of motor neurons in the spinal cord and brain stem (MIM 253300, 253550, 253400, 271150). The age of onset and severity of the disorder are highly variable.read more
2 Panel Genes: SMN1, SMN2
Next Gen Sequencing & Del/Dup Analysis
Test Code: 6008
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Typically within 2 weeks from receipt of a sample in the laboratory.
1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
2. Genomic DNA: a minimum of 3 ug (at a concentration of at least 30 ng/ul)
Ship all specimen types at room temperature by overnight courier. Do no freeze.