Spinal muscular atrophy (SMA) – Carrier testing for heterozygous deletion in SMN1 gene
Analysis ID 227
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Spinal muscular atrophy (SMA) – Carrier testing for heterozygous deletion in SMN1 gene
OMIM #253300, #253550, #253400, #271150
Clinical information Spinal muscular atrophy (SMA) refers to a group of autosomal recessive neuromuscular disorders characterized by a degeneration of the neural cells in anterior horn of the spinal cord, which leads to a symmetrical muscle weakness and muscle atrophy. SMA is one of the most common lethal, autosomal recessive disorders in Caucasians. Several types of SMA have been described depending on the age of onset and developmental milestones achieved in infancy. Type I is a severe infantile acute SMA also known as Werdnig-Hoffman disease. Type II or infantile chronic SMA is also called an intermediate form of the disease, whereas type III (juvenile SMA) is referred to as Kugelberg-Welander disease. Type IV is rare and comprise cases of adult-onset SMA. All types are caused by recessive mutations in the SMN1 gene.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes SMN1; survival of motor neuron 1
Analysis description Analysis comprises copy number determination of the SMN1 gene with use of MLPA method
Analysis indication Symptoms of SMA
Analysis time Appointed individually
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics