PKHD1 Deletion/Duplication

A family history of polycystic (hereditary) kidney disease and:
1) The presence of three or more (unilateral or bilateral) renal cysts on ultrasound in an individual 15-39 years of age (Pei 2009).
OR
The presence of a total of more than ten cysts on MRI in an individual between the ages of 16-40 years of age (Pei 2015).
2) The presence of two or more cysts in each kidney on ultrasound in an individual 40-59 years of age (Pei 2009).
3) Cysts in other organs including the liver, seminal vesicles, pancreas, and arachnoid membrane, or extra renal abnormalities including intracranial aneurysms and dolichoectasias, dilatation of the aortic root and absence of other manifestations suggestive of a different renal cystic disease. *Please note that this criterion alone is not an indication for genetic testing for ADPKD.
No Family history of ADPKD and
4) The presence of bilateral renal enlargement and cysts with or without the presence of hepatic cysts and absence of other manifestations suggestive of a different renal cystic disease (Chapman).
ARPKD
5) Increased renal size, echogenicity and poor corticomedullary differentiation (CMD)
6) Oligohydramnios or anhydramnios
7) Imaging findings consistent with biliary ductal ectasia
8) Clinical/laboratory signs of congenital hepatic fibrosis that leads to portal hypertension and may be indicated by hepatosplenomegaly and/or esophageal varices
9) Hepatobiliary pathology demonstrating a characteristic developmental biliary ductal plate abnormality and resultant congenital hepatic fibrosis
PKD
10) An affected family member with a known PKD1, PKD2 or PKHD1 variant(s). Note testing is restricted to only the familial variant(s). Testing in children is not recommended in the absence of clinical symptoms.