Mayo Test Catalog, (Sorted By Test Name) - Mayo Medical ...

ARPKM
88912
FAVI
91509
An interpretive report will be provided.
Clinical References: 1. Guay-Woodford LM, Desmond RA: Autosomal recessive polycystic
kidney disease: the clinical experience in North America. Pediatrics 2003;111:1072-1080 2.
Gunay-Aygun M, Avner E, Bacallao RL, et al: Autosomal recessive polycystic kidney disease and
congenital hepatic fibrosis: summary of a first National Institutes of Health/Office of Rare Diseases
conference. J Pediatr 2006;149:159-164 3. Harris PC, Rossetti S: Molecular genetics of autosomal
recessive polycystic kidney disease. Mol Genet Metab 2004;81:75-85
Autosomal Recessive Polycystic Kidney Disease (ARPKD),
Known Mutation
Clinical Information: Autosomal recessive polycystic kidney disease (ARPKD) is a disorder
caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene. The incidence of
ARPKD is approximately 1:20,000 and the estimated carrier frequency in the general population is
1:70. ARPKD is characterized by enlarged echogenic kidneys, congenital hepatic fibrosis, and
pulmonary hypoplasia (secondary to oligohydramnios [insufficient volume of amniotic fluid] in utero).
Most individuals with ARPKD present during the neonatal period, and of those, nearly one third die of
respiratory insufficiency. Early diagnosis, in addition to initiation of renal replacement therapy (dialysis
or transplantation) and respiratory support, increases the 10-year survival rate significantly. Presenting
symptoms include bilateral palpable flank masses in infants and subsequent observation of typical
findings on renal ultrasound, often within the clinical context of hypertension and prenatal
oligohydramnios. In rarer cases, individuals may present during childhood or adulthood with
hepatosplenomegaly. Of those who survive the neonatal period, one third progress to end-stage renal
disease and up to half develop chronic renal insufficiency. The PKHD1 gene maps to 6p12 and includes
67 exons. The PKHD1 gene encodes a protein called fibrocystin, which is localized to the primary cilia
and basal body of renal tubular and biliary epithelial cells. Because ARPKD is an autosomal recessive
disease, affected individuals must carry 2 deleterious mutations within the PKHD1 gene. Although
disease penetrance is 100%, intrafamilial variation in disease severity has been observed.
Useful For: Carrier testing of individuals for ARPKD when familial mutations have been previously
identified Diagnostic confirmation of autosomal recessive polycystic kidney disease when familial
mutations have been previously identified Prenatal diagnosis when 2 familial mutations have been
previously identified in an affected family member
Interpretation: An interpretative report will be provided.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Guay-Woodford LM, Desmond RA: Autosomal recessive polycystic
kidney disease: the clinical experience in North America. Pediatrics 2003;111:1072-1080 2.
Gunay-Aygun M, Avner E, Bacallao RL, et al: Autosomal recessive polycystic kidney disease and
congenital hepatic fibrosis: summary of a first National Institutes of Health/Office of Rare Diseases
conference. J Pediatr 2006;149:159-164 3. Harris PC, Rossetti S: Molecular genetics of autosomal
recessive polycystic kidney disease. Mol Genet Metab 2004;81:75-85
Avian Panel (5 Bird Antigens), Serum
Reference Values:
This panel includes the following antigens:
Pigeon DE
Parakeet
Cockatiel
Parrot
Pigeon Sera
Current as of January 3, 2013 2:22 pm CST 800-533-1710 or 507-266-5700 or MayoMedicalLaboratories.com Page 205