Fanconi syndrome / FS (FAN1-related) - Basenji

What does this test analyse?

This genetic test analyses the FAN1 c.2954_3090+181del deletion in the Basenji. The disorder is known as Fanconi syndrome, FS, spontaneous Fanconi syndrome, idiopathic Fanconi syndrome, renal Fanconi disease or an inherited proximal tubule disorder.

Fanconi syndrome disrupts the function of the proximal renal tubules. Substances that should normally be reabsorbed by the kidney are lost in urine, including glucose, amino acids, water and electrolytes. Affected dogs may drink more, urinate more, become dehydrated, lose weight, develop muscle weakness and eventually progress to kidney failure. Clinical signs may only become obvious in adulthood, which makes genetic information especially useful before breeding decisions.

Practical value of this test

The test helps Basenji breeders and owners manage risk within a family line. Because Fanconi syndrome is autosomal recessive, carriers are usually not ill themselves but can pass the deletion to offspring. Testing breeding dogs beforehand makes it possible to avoid carrier matings and to keep healthy carriers in the population responsibly when paired with clear partners.

• N/N: the tested deletion was not detected.
• N/del: the dog is a carrier and can pass the deletion on.
• del/del: this genotype causes the tested FAN1-related Fanconi form.