Patent ID: 7033752

Claim:
A method of detecting the presence in a human patient of an altered Survival Motor Neuron (SMN) gene associated with Spinal Muscular Atrophy, comprising: analyzing exon 7 or exon 8 of a gene identified as T-BCD541 (SEQ ID NO:22) in a biological sample derived from the patient, and comparing said exon 7 to the corresponding exon from nucleotide position 340 to nucleotide position 401 of SEQ ID NO:12, or exon 8 to the corresponding exon from nucleotide position 846 to nucleotide position 1408 of SEQ ID NO:12, which is present in a normal tissue; wherein an alteration of either exon 7 or exon 8 in said patient sample with reference to said normal tissue is indicative of the presence of an altered Survival Motor Neuron (SMN) gene associated with Spinal Muscular Atrophy in said patient.