Autosomal dominant tubulointerstitial kidney disease is characterized by: (1) autosomal dominant inheritance, (2) bland urinary sediment (absence of blood or protein n the urine), and (3) chronic kidney disease with a mean age of requiring dialysis or transplant of approximately 45 years (range 20 to 80 years).​

In 2013, Dr Eric Lander’s team at the Broad Institute analyzed samples provided by The Wake Forest Rare Inherited Kidney Disease Team led by Anthony Bleyer, MD and identified mutations in the MUC1 gene as a cause of ADTKD. Since then, over 2,500 individuals from 43 countries have undergone testing at the Broad Institute, with over 150 families in the US identified with ADTKD-MUC1. Dr. Bleyer’s team leads clinical research in ADTKD and has a large registry of families with ADTKD-MUC1. Dr. Anna Greka’s team is performing ground-breaking basic research in ADTKD at the Broad Institute. Together with other teams throughout the world, these groups are working to develop a treatment for ADTKD-MUC1.​

ADTKD caused by MUC1 mutations (ADTKD-MUC1) is due to mutations in a segment of the MUC1 gene that is extremely difficult to analyze. Current commercially available multi-gene panels, whole exome sequencing, and whole genome sequencing do not detect MUC1 mutations. Therefore, patients with ADTKD and a negative gene panel have a high possibility of having MUC1 mutations.​

In the United States, The Broad Institute of Harvard and MIT is the only entity providing clinically approved (CLIA-approved) genetic testing for the common mutations causing ADTKD-MUC1. Testing is free for individuals and families with ADTKD. Samples are collected through the Wake Forest Rare Inherited Kidney Disease team and sent to the Broad Institute for testing. Contact kidney@wakehealth.edu (see below).​

Testing can also be performed on samples from other countries.