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Fanconi Syndrome

※ This test can be ordered individually or as part of the Basenji breed-specific panel. (Excluded from premium test items)

Genetic Test

Fanconi syndrome (FS) in Basenjis is strongly associated with a 317 bp deletion mutation in the FAN1 gene located on chromosome 3. The FAN1 gene encodes a protein involved in repairing DNA interstrand crosslinks. When the function of this protein is compromised, proximal tubular cells in the kidney become more susceptible to toxins that cause DNA damage, leading to the development of FS.

Disease Description

Fanconi syndrome is a condition in which the kidneys are unable to properly absorb certain chemicals that the body needs. These chemicals include glucose, sodium, potassium, phosphorus, uric acid, bicarbonate, albumin, and amino acids, which cannot be reabsorbed by the kidneys and are excreted in the urine. There are acquired and inherited forms of the disease, and it is known to be a genetic disorder that runs in the Basenji breed.