Genetic Methods

Standard genetic testing, including karyotyping or Sanger DNA sequencing, has failed to detect chromosomal abnormalities in many urogenital anomalies. However, karyotyping can only detect large chromosomal alterations (changes affecting >5 Mb of DNA), and often misses microdeletions or microduplications.

New molecular techniques can overcome these limitations and comprehensively assay the entire human genome. These newer techniques, including high-resolution comparative genomic hybridization and whole exome sequencing, have great potential to identify the molecular basis of many unknown urogenital congenital defects.


 In the nucleus of our cells, our genetic code is packaged in 48 chromosomes, composed of long strands of DNA that carry our genes.  Sometimes mutations or other DNA changes occur which can cause disease or birth defects.  New DNA tests can find these problems at much greater detail and speed than in the past.