Sorted By Test Name - Mayo Medical Laboratories

FIFAF
91181
FSAGA
90047
X-linked disorder, it occurs almost exclusively in males with an estimated incidence of 1 in 100,000 male
births (though symptomatic carrier females have been reported). Treatment options include hematopoietic
stem cell transplantation and/or enzyme replacement therapy. A diagnostic workup in an individual with
MPS II typically demonstrates elevated levels of urinary GAGs and increased amounts of both dermatan
and heparan sulfate detected on thin-layer chromatography. Reduced or absent activity of IDS in
fibroblasts, leukocytes plasma, and/or serum can confirm a diagnosis of MPS II; however, enzymatic
testing is not reliable to detect carriers. Molecular sequence analysis of the IDS gene allows for detection
of the disease-causing mutation in affected patients and subsequent carrier detection in female relatives.
Currently, no clear genotype-phenotype correlations have been established.
Useful For: Diagnosis of mucopolysaccharidosis II (MPS II, Hunter syndrome)
Interpretation: Values near zero suggest mucopolysaccharidosis II. Values above the reference range
are not clinically significant.
Reference Values:
0.15-0.86 nmol/hour/mg
Clinical References: 1. Martin R, Beck M, Eng C, et al: Recognition and diagnosis of
mucopolysaccharidosis II (Hunter syndrome). Pediatrics 2008;121(2):e377-86 2. Wraith JE, Scarpa M,
Beck M, et al: Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations
for treatment in the era of enzyme replacement therapy. Eur J Pediatr 2008;167(3):266-277 3. Wasteson
A, Neufeld EF: Iduronate sulfatase from human plasma. Meth Enzymol 1982;83:573-578 4. Enns GM,
Steiner RD, Cowan TM: Lysosomal Disorders. In Pediatric Endocrinology and Inborn Errors of
Metabolism. Edited by K Sarafoglou, GF Hoffmann, KS Roth, New York, McGraw-Hill Medical
Division, 2009, pp 732
IgA Fibronectin Aggregates, ELISA
Reference Values:
REFERENCE RANGE: < 3.0 EIA Units
INTERPRETIVE CRITERIA:
< 3.0 Aggregates Not Detected
> or = 3.0 Aggregates Detected
Aggregates consisting of IgA complexed with fibronectin are
found in sera of most patients with IgA nephropathy and
patients with Henoch-Schonlein purpura. Detection of these
aggregates is based on their specific attachment to a
fragment of Type I collagen.
Test Performed by: Focus Diagnostics, Inc.
5785 Corporate Avenue
Cypress, CA 90630-4750
IgA Salivary, RID
Reference Values:
REFERENCE RANGE: 6.2-14.5 mg/dL
Decreased salivary IgA may be present in children with recurrent
upper respiratory infection, selective IgA deficiency and occasional
individuals with food allergies.
This assay was performed using a kit labeled "For Research Use
Only" by the kit manufacturer. The kitâ€s performance characteristics
have been established and validated by FOCUS TECHNOLOGIES
Current as of January 4, 2013 7:15 pm CST 800-533-1710 or 507-266-5700 or MayoMedicalLaboratories.com Page 998