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

FBP1
86208
these modified WHO criteria as of 2010 (http://www.cdc.gov/ncidod/dvrd/cjd/diagnostic_criteria.html).
There is no established role for 14-3-3 measurement in the diagnosis of acquired or inherited CJD.
Reference Values:
Normal: or =1.5 ng/mL; compatible with, but not diagnostic of, Creutzfeldt-Jakob disease
Clinical References: 1. Day IN, Thompson RJ: Levels of immunoreactive aldolase C, creatine
kinase-BB, neuronal and non-neuronal enolase, and 14-3-3 protein in circulating human blood cells. Clin
Chim Acta 1984;136:219-228 2. Collins S, Boyd A, Fletcher A, et al: Creutzfeldt-Jakob disease:
diagnostic utility of 14-3-3 protein immunodetection in cerebrospinal fluid. J Clin Neurosci
2000;7:203-208 3. Preissner CM, Aksamit AJ, Parisi JE, Grebe SK: Development and validation of an
immunochemiluminometric assay for 14-3-3 protein. Clin Chem 2009;55(S6):page A199; abstract D-149
4. Collins S, Boyd A, Fletcher A, et al: Creutzfeldt-Jakob disease: diagnostic utility of 14-3-3 protein
immunodetection in cerebrospinal fluid. Clin Neuroscience 2000;7:203-208 5. Burkhard PR, Sanchez JC,
Landis T, et al: CSF detection of the 14-3-3 protein in unselected patients with dementia. Neurology
2001;56:1528-1533 6. Aksamit AJ, Preissner CM, Homburger HA: Quantitation of 14-3-3 and
neuron-specific enolase proteins in CSF in Creutzfeldt-Jakob disease. J Neurol 2001;57:728-730 7.
Castellani RJ, Colucci M, Xie Z, et al: Sensitivity of 14-3-3 protein test varies in subtypes of sporadic
Creutzfeldt-Jakob disease. Neurology 2004;63:436-442
15q Deletion, Type I and Type II Characterization,
Prader-Willi/Angelman Syndromes, FISH
Clinical Information: Prader-Willi (PWS) and Angelman (AS) syndromes are 2 distinct syndromes
that can result from either a paternal or maternal deletion of 15q11-q13, respectively. Other mechanisms
of inheritance include maternal uniparental disomy (UPD) in PWS, paternal UPD in AS, or abnormal
methylation and gene expression. Both type I and type II 15q11-q13 deletions have been described. Type
1 deletions are larger deletions, spanning breakpoint (BP)1 and distal BP3 breakpoints, while type II
deletions are smaller (approximately 500kb), spanning BP2 and BP3. Depending on the deletion type,
behavioral differences have been reported in both PWS and AS patients. Type I patients have more severe
phenotypes including delayed development and autistic features. Distinguishing between type I and type
II deletions is useful in counseling PWS or AS patients. Type I and II deletions may be detected by
evaluating the RP11-289D12 region on chromosome 15 with specific DNA probes. A +dic(15) marker
chromosome (an extra or supernumerary dicentric chromosome 15) is often familial and is usually
consistent with a normal phenotype, but depending on its size, the marker can be associated with PWS or
AS. Larger dic(15) are usually new mutations and are associated with mental retardation and mild
dysmorphic features. See Prader-Willi and Angelman Syndromes: Laboratory Approach to Diagnosis in
Special Instructions for additional information.
Useful For: Differentiating between type I and type II deletions in Prader-Willi syndrome and
Angelman syndrome patients, as follow-up testing after a SNRPN or D15S10 deletion has been detected
by FISH analysis or in patients with a +dic(15) chromosome lacking the SNRPN or D15S10 loci (see
DUP15/89365 15q11.2 Duplication, FISH) Mapping duplications in patients who carry a +dic(15) marker
chromosome
Interpretation: Any individual with a normal signal pattern (2 signals) in each metaphase is
considered negative for a deletion in the region tested by this probe (see Cautions). Any patient with a
FISH signal pattern indicating loss of the critical region will be reported as having a deletion of the region
tested by this probe. This test should be performed as a reflex test when a SNRPN or D15S10 deletion has
been detected by FISH analysis or in patients with a dic(15) chromosome lacking the SNRPN or D15S10
loci.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Butler MG, Bittel DC, Kibiryeva N, et al: Behavioral differences among
Current as of January 3, 2013 2:22 pm CST 800-533-1710 or 507-266-5700 or MayoMedicalLaboratories.com Page 20