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

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FBKM<br />

89311<br />

condition. Additional confirmatory testing would be required.<br />

Reference Values:<br />

C22:0<br />

< or =96.3 nmol/mL<br />

C24:0<br />

< or =91.4 nmol/mL<br />

C26:0<br />

< or =1.30 nmol/mL<br />

C24:0/C22:0 RATIO<br />

< or =1.39<br />

C26:0/C22:0 RATIO<br />

< or =0.023<br />

PRISTANIC ACID<br />

0-4 months: < or =0.60 nmol/mL<br />

5-8 months: < or =0.84 nmol/mL<br />

9-12 months: < or =0.77 nmol/mL<br />

13-23 months: < or =1.47 nmol/mL<br />

> or =24 months: < or =2.98 nmol/mL<br />

PHYTANIC ACID<br />

0-4 months: < or =5.28 nmol/mL<br />

5-8 months: < or =5.70 nmol/mL<br />

9-12 months: < or =4.40 nmol/mL<br />

13-23 months: < or =8.62 nmol/mL<br />

> or =24 months: < or =9.88 nmol/mL<br />

PRISTANIC/PHYTANIC ACID RATIO<br />

0-4 months: < or =0.35<br />

5-8 months: < or =0.28<br />

9-12 months: < or =0.23<br />

13-23 months: < or =0.24<br />

> or =24 months: < or =0.39<br />

Clinical References: 1. Moser AB, Kreiter N, Bezman L, et al: Plasma very long chain fatty acid<br />

assay in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol 1999;45:100-110 2.<br />

Wanders RJA: Inborn Errors of Peroxisome Biogenesis and Function. In Pediatric Endocrinology and<br />

Inborn Errors of Metabolism. Edited by K Sarafoglou, GF Hoffmann, KS Roth, New York, NY,<br />

McGraw-Hill <strong>Medical</strong> Division, 2009, pp 323-337<br />

FBN1 Genetic Analysis, Known Mutation<br />

Clinical Information: Fibrillin-1 is a 320-kD cysteine-rich glycoprotein found in the extracellular<br />

matrix. Monomers of fibrillin-1 associate to form microfibrils, which provide mechanical stability and<br />

elastic properties to connective tissues. Fibrillin-1 is encoded by the FBN1 gene, which contains 65<br />

exons and is located at chromosome 15q21. FBN1 mutations are most commonly associated with<br />

Marfan syndrome (MFS), an autosomal dominant connective tissue disorder involving the ocular,<br />

skeletal, and cardiovascular systems. Ocular MFS manifestations most commonly include myopia and<br />

lens displacement. Skeletal manifestations can include arachnodactyly (abnormally long and slender<br />

fingers and toes), dolichostenomelia (long limbs), pectus (chest wall) deformity, and scoliosis.<br />

Cardiovascular manifestations, which are the major cause of early morbidity and mortality in MFS,<br />

include aortic dilation and aortic aneurysm and dissection, as well as mitral valve and tricuspid valve<br />

Current as of January 3, 2013 2:22 pm CST 800-533-1710 or 507-266-5700 or <strong>Mayo</strong><strong>Medical</strong>Laboratories.com Page 733

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