Patent ID: 6403303
Filing Date: 2002-06-11
Classification: C12Q

Abstract:
A method for testing a sample for mutations in the BRCA1 gene comprising the steps of:(a) amplifying exons 1 and 21, or a portion of each exon, of the BRCA1 gene to produce amplified fragments, wherein the exons or portions thereof are amplified in a multiplex amplification reaction to produce multiplex amplification products for analysis; (b) determining the sizes and amounts of amplified fragments in the multiplex amplification products and comparing the determined sizes or amounts to standard values for amplification of the same exons or portions thereof of wild-type BRCA1 gene, wherein a difference in fragment size or amount is indicative of the presence of a mutation in the BRCA1 gene; and (c) if no mutation is detected in the BRCA1 gene as a result of the determination of the sizes and amounts of the amplification fragments, determining the sequence of one or more exons of the BRCA1 gene.