Patent ID: 7799529

Claim:
A method for detecting the presence or absence of a mutation in the coding region of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1), comprising the steps of: a) analyzing all, or a portion of, the nucleotide sequence of the coding region of a NPHS1 gene contained in the nucleic acid test sample; b) comparing the results of the analysis of the nucleotide sequence of the NPHS1 gene coding region in the nucleic acid test sample of step a) with the results of an analysis of a control sample, wherein the control sample comprises a NPHS1 gene, and wherein the nucleotide sequence of the coding region of the control NPHS1 gene consists of SEQ ID NO: 1; and c) determining the presence or absence of differences between the nucleic acid sequence of the coding region of the NPHS1 gene in the nucleic acid test sample and SEQ ID NO: 1, wherein the determination of a difference between said nucleic acid sequence of the coding region of the NPHS1 gene in the nucleic acid test sample and SEQ ID NO: 1 is indicative of a mutation in the coding region of the test sample NPHS1 gene.