Sorted By Test Name - Mayo Medical Laboratories

FALUF
57286
ALB
8436
involved in the metabolic reactions that decrease oxalate production. However, only 20% to 30% of
patients have been known to be responsive to pyridoxine. Testing patients for pyridoxine responsiveness
has been recommended at any stage of renal function, although assessment of pyridoxine responsiveness
is not always easy to perform and diagnostic criteria have not been standardized. Recently, researchers at
Mayo Clinic found that patients with a particular mutation (Gly170Arg) in the AGXT gene are responsive
to the pyridoxine, while affected individuals without this mutation are not responsive.
Useful For: Identifying patients with the pyridoxine responsive form of PH1 Determining the presence
of the Gly170Arg (G170R) mutation in the AGXT gene Carrier testing of at-risk family members
Interpretation: Reported as negative or positive. The laboratory provides an interpretation of the
results. This interpretation includes an overview of the results and their significance and a correlation to
available clinical information.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Milosevic D, Rinat C, Batinic D, Frishberg Y: Genetic analysis-a diagnostic
tool for primary hyperoxaluria type I. Pediatr Nephrol 2002 Nov;17(11):896-898 2. Pirulli D, Marangella
M, Amoroso A: Primary hyperoxaluria: genotype-phenotype correlation. J Nephrol 2003
Mar-Apr;16(2):297-309 3. Amoroso A, Pirulli D, Florian F, et al: AGXT gene mutations and their
influence on clinical heterogeneity of type I primary hyperoxaluria. J Am Soc Nephrol 2001
Oct;12(10):2072-2079
Albumin, Body Fluid
Reference Values:
Units: mg/dL
Not Established
Test Performed By: ARUP Laboratories
500 Chipeta Way
Salt Lake City, UT 84108
Albumin, Serum
Clinical Information: Albumin is a carbohydrate-free protein, which constitutes 55-65% of total
plasma protein. It maintains oncotic plasma pressure, is involved in the transport and storage of a wide
variety of ligands, and is a source of endogenous amino acids. Albumin binds and solubilizes various
compounds, including bilirubin, calcium, long-chain fatty acids, toxic heavy metal ions, and numerous
pharmaceuticals. Hypoalbuminemia is caused by several factors: impaired synthesis due either to liver
disease (primary) or due to diminished protein intake (secondary); increased catabolism as a result of
tissue damage and inflammation; malabsorption of amino acids; and increased renal excretion (e.g.
nephrotic syndrome).
Useful For: Plasma or serum levels of albumin are frequently used to assess nutritional status.
Interpretation: Hyperalbuminemia is of little diagnostic significance except in the case of
dehydration. When plasma or serum albumin values fall below 2.0 g/dL, edema is usually present.
Reference Values:
> or = 12 months: 3.5-5.0 g/dL
Reference values have not been established for patients that are less than 12 months of age.
Clinical References: 1. Tietz Textbook of Clinical Chemistry. Edited by Burtis and Ashwood.
Philadelphia, WB Saunders Co, 1994. 2. Peters T, Jr: Serum albumin. In The Plasma Proteins. Second
edition Vol 1. Edited by F Putnam, New York, NY, Academic Press, 1975.
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