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We currently offer DNA mutation analysis of the NDP gene using PCR amplification and direct DNA sequencing of the coding exons as well as MLPA analysis. Nonsense, missense, splicing mutations, small insertion and deletion mutations and large exonic dup/dels have all been reported in the NDP gene. The large DNA rearrangements in a female carrier can only be detected by quantitative assays as MLPA. At present we are able to identify NDP gene mutations in about 85% of known familial cases..
Sample Preparation: Sample Preparation (PDF)
ReasonDNA analysis is appropriate for the study of affected male patients, for diagnostic confirmation in a suspected affected patient, and in prenatal testing situations after the family mutation has been identified in the proband. The study is also appropriate for female family members who are at-risk of being a carrier of the familial NDP mutation.
Results of DNA analysis will be communicated in a written report to the referring professional.
Clinical Research OpportunitiesDr. Sims maintains an IRB approved Norrie Disease Registry through the Massachusetts General Hospital. If you would be willing to participate in this Registry, please contact us and we will provide you with further information.
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