Sorted By Test Name - Mayo Medical Laboratories

FAVI
91509
AVOC
82812
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
This result must be correlated with patientâ€s clinical response and should not solely be considered in
the diagnosis.
Test Performed by: Medical College of WI
MACC Fund Research Center, Room 5068
Jordan N. Fink, M.D.
Allergy-Immunology Diagnostic Lab
8701 Watertown Plank Road
Milwaukee, WI 53226
Avocado, IgE
Clinical Information: Clinical manifestations of immediate hypersensitivity (allergic) diseases are
caused by the release of proinflammatory mediators (histamine, leukotrienes, and prostaglandins) from
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