Sorted By Test Name - Mayo Medical Laboratories

KPCRP
89675
GALCS
60696
moderate expression of Turner syndrome features than females with a nonmosaic 45,X karyotype. The
presence of a Y chromosome confers increased risk of gonadoblastoma.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Canto P, Kofman-Alfaro S, Jiminez AL, et al: Gonadoblastoma in Turner
syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences. Cancer Genet
Cytogenet 2004;150:70-72 2. Gravholt CH, Fedder J, Naeraa RW, Muller J: Occurrence of
gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. J Clin
Endocrinol Metab 2000;85:3199-3202 3. Sybert VP, McCauley E: Turner syndrome. N Engl J Med
2004;351:1227-1238
KPC (blaKPC) in Enterobacteriaceae, Molecular Detection, PCR
Clinical Information: Resistance to carbapenem antibiotics, by means of the enzyme KPC
(Klebsiella pneumoniae carbapenemase), produced by Klebsiella pneumoniae and other members of the
Enterobacteriaceae family, is becoming more common. The gene blaKPC encodes KPC production. In
addition to KPC production, several other genetic factors can cause resistance to carbapenems including
production of other carbapenemases, plasmid-encoded AmpC beta-lactamases, or extended
beta-lactamase (ESBL) combined with decreased membrane permeability. It is important to know if an
isolate is resistant to carbapenems for proper reporting of antimicrobial susceptibility results and, in turn,
determining proper antimicrobial therapy. Detection of carbapenemases by the conventional phenotypic
method (ie, modified Hodge test) may be subjective and is not rapid. Testing for the minimum inhibitory
concentration (MIC) determines the level of resistance of the isolate, but not the mechanism causing the
resistance. Real-time PCR is a sensitive, specific, and rapid means of detecting of a specific portion of the
gene encoding KPC production.
Useful For: Assessing pure isolates of Klebsiella pneumoniae or other members of the
Enterobacteriaceae for carbapenem resistance
Interpretation: A positive KPC (Klebsiella pneumoniae carbapenemase) PCR indicates that the isolate
tested carries blaKPC. Carbapenems (doripenem, ertapenem, imipenem, meropenem) should not be used
to treat these isolates. A negative result indicates the absence of detectable DNA, however false negative
results may occur due to inhibition of PCR or sequence variability underlying primers and/or probes. The
assay detects the 13 blaKPC genotypes described as of June 2012.
Reference Values:
Not applicable
Clinical References: 1. Real-Time PCR Procedure for Detection of Genes Encoding KPC
Carbapenemases. Centers for Disease Control and Prevention 2007.(unpublished) 2. CLSI Document
M100-S19, Vol 29, No.3, 2009. CLSI, Wayne, PA 3. Anderson KF, Lonsway DR, Rasheed JK, et al:
Evaluation of methods to identify the Klebsiella pneumoniae carbapenemase in Enterobacteriaceae. J Clin
Microbiol 2007;45(8):2723-2725
Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion,
PCR
Clinical Information: Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive
disorder caused by a deficiency of galactocerebrosidase (GALC, galactosylceramide beta-galactosidase).
GALC is encoded by the GALC gene located on 14q31. Krabbe disease occurs in approximately 1 in
100,000 live births with a carrier frequency of about 1 in 150 in the general population. Deficiency of
GALC activity leads to an accumulation of galactosylceramide in globoid cells (multinucleated
macrophages) causing severe demyelination throughout the brain. The toxic metabolite
galactosylsphingosine (psychosine), an apoptotic compound, accumulates in oligodendrocytes and
Schwann cells and contributes to disease pathogenicity. Severely affected individuals typically present
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