FURI | Spring 2019

Modeling Carriers and Biological Specimen Utility of a Molecular Diagnostic Biosensor for Navajo Neurohepatopathy

Navajo Neurohepatopathy (NNH) is caused by a single nucleotide polymorphism (SNP) and is fatal to the 1 in 1,600 Navajo children affected. To confirm positive NNH diagnoses, clinicians need to collect genetic samples noninvasively from the child and the mother (who would be a carrier if the child has NNH). Therefore, this study aimed to validate the diagnostic for heterozygous carriers and various biological sample types. To do so, derivative fluorescence outputs from a quantitative, real-time polymerase chain reaction (qPCR) assay were assessed to minimize false positives and negatives for these respective groups.