Sorted By Test Name - Mayo Medical Laboratories

FBKM
89311
C26:0
< or =1.30 nmol/mL
C24:0/C22:0 RATIO
< or =1.39
C26:0/C22:0 RATIO
< or =0.023
PRISTANIC ACID
0-4 months: < or =0.60 nmol/mL
5-8 months: < or =0.84 nmol/mL
9-12 months: < or =0.77 nmol/mL
13-23 months: < or =1.47 nmol/mL
> or =24 months: < or =2.98 nmol/mL
PHYTANIC ACID
0-4 months: < or =5.28 nmol/mL
5-8 months: < or =5.70 nmol/mL
9-12 months: < or =4.40 nmol/mL
13-23 months: < or =8.62 nmol/mL
> or =24 months: < or =9.88 nmol/mL
PRISTANIC/PHYTANIC ACID RATIO
0-4 months: < or =0.35
5-8 months: < or =0.28
9-12 months: < or =0.23
13-23 months: < or =0.24
> or =24 months: < or =0.39
Clinical References: 1. Moser AB, Kreiter N, Bezman L, et al: Plasma very long chain fatty acid
assay in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol 1999;45:100-110 2. Wanders
RJA: Inborn Errors of Peroxisome Biogenesis and Function. In Pediatric Endocrinology and Inborn Errors
of Metabolism. Edited by K Sarafoglou, GF Hoffmann, KS Roth, New York, NY, McGraw-Hill Medical
Division, 2009, pp 323-337
FBN1 Genetic Analysis, Known Mutation
Clinical Information: Fibrillin-1 is a 320-kD cysteine-rich glycoprotein found in the extracellular
matrix. Monomers of fibrillin-1 associate to form microfibrils, which provide mechanical stability and
elastic properties to connective tissues. Fibrillin-1 is encoded by the FBN1 gene, which contains 65 exons
and is located at chromosome 15q21. FBN1 mutations are most commonly associated with Marfan
syndrome (MFS), an autosomal dominant connective tissue disorder involving the ocular, skeletal, and
cardiovascular systems. Ocular MFS manifestations most commonly include myopia and lens
displacement. Skeletal manifestations can include arachnodactyly (abnormally long and slender fingers
and toes), dolichostenomelia (long limbs), pectus (chest wall) deformity, and scoliosis. Cardiovascular
manifestations, which are the major cause of early morbidity and mortality in MFS, include aortic dilation
and aortic aneurysm and dissection, as well as mitral valve and tricuspid valve prolapse. There is
significant inter- and intrafamilial variability in phenotype. FBN1 mutations have also been reported in
several other rare phenotypes with variable overlap with classic MFS. These conditions include neonatal
MFS, autosomal dominant ectopia lentis (displacement of the lens of the eye), familial thoracic aortic
aneurysm and dissection, isolated skeletal features of MFS, MASS phenotype (mitral valve prolapse,
aortic diameter increased, stretch marks, skeletal features of MFS), Shprintzen-Goldberg syndrome
(Marfanoid-craniosynostosis [premature ossification and closure of sutures of the skull]), and autosomal
dominant Weill-Marchesani syndrome (short stature and short fingers, ectopia lentis). Hundreds of
mutations have been identified in FBN1, many of them unique to individual families. There is a wide
Current as of January 4, 2013 7:15 pm CST 800-533-1710 or 507-266-5700 or MayoMedicalLaboratories.com Page 729