SPINAL MUSCULAR ATROPHY
Analysis ID 52
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness SPINAL MUSCULAR ATROPHY
OMIM #253300
Clinical information Spinal Muscular Atrophy is an autosomal recessive genetic disorder. It is characterized by degeneration of the cells from anterior horn of the spinal cord, which leads to symmetrical muscle weakness and atrophy.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes SMN1; survival of motor neuron 1
Analysis description Analysis of the deletion 7th and 8th exon of the SMN1gene.
Analysis indication Symptoms of Spinal Muscular Atrophy
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics