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

FABMS
88264
Negative
Clinical References: 1. Delattree O, Zucman J, Melot T, et al: The Ewing family of tumors - A
subgroup of small-round-cell tumors defined by specific chimeric transcripts. N Engl J Med
1994;331:218-222 2. Barr FG, Chatten J, D'Cruz CM, et al: Molecular assays for chromosomal
translocations in the diagnosis of pediatric soft tissue sarcomas. JAMA 1995;273:553-557 3. Ladanyi
M, Bridge JA: Contribution of molecular genetic data to the classification of sarcomas. Hum Pathol
2000;31:532-538 4. Jin L, Majerus J, Oliveira A, by et al: Detection of fusion gene transcripts in
fresh-frozen and formalin-fixed paraffin-embedded tissue sections of soft tissue sarcomas after laser
capture microdissection and RT-PCR. Diagn Mol Pathol 2003;12:224-230 5. Zucman J, Melot T,
Desmaze C, et al: Combinatorial generation of variable fusion proteins in the Ewing family of tumours.
EMBO J 1993;12:4481-4487
Fabry Disease, Full Gene Analysis
Clinical Information: Fabry disease is an X-linked recessive disorder with an incidence of
approximately 1 in 50,000 males. Symptoms result from a deficiency of the enzyme alpha-galactosidase
A (alpha-Gal A). Reduced alpha-Gal A activity results in accumulation of glycosphingolipids in the
lysosomes of both peripheral and visceral tissues. Severity and onset of symptoms are dependent on the
residual alpha-Gal A activity. Males with 1% alpha-Gal A activity may present with a variant form of Fabry
disease. The renal variant generally has onset of symptoms in the third decade. The most prominent
feature in this form is renal insufficiency and, ultimately, end-stage renal disease. Individuals with the
renal variant may or may not have other symptoms of classic Fabry disease. Individuals with the cardiac
variant are often asymptomatic until they present with cardiac findings such as cardiomyopathy or
mitral insufficiency later in life. The cardiac variant is not associated with renal failure. Female carriers
of Fabry disease can have clinical presentations ranging from asymptomatic to severe. Measurement of
alpha-Gal A activity is not generally useful for identifying carriers of Fabry disease, as many of these
individuals have normal levels of alpha-Gal A. Mutations in the GLA gene result in deficiency of
alpha-Gal A. Most of the mutations identified to date are family specific. Full sequencing of the GLA
gene identifies over 98% of the sequence variants in the coding region and splice junctions. In addition,
our assay detects the intron 4 mutation common in the Taiwanese population.(3) See Fabry Disease:
Newborn Screen-Positive Follow-up algorithm and Fabry Disease Testing Algorithm in Special
Instructions.
Useful For: Confirmation of a diagnosis of classic or variant Fabry disease in affected males with
reduced alpha-Gal A enzyme activity Carrier or diagnostic testing for asymptomatic or symptomatic
females, respectively
Interpretation: All detected alterations will be evaluated according to the American College of
Medical Genetics and Genomics (AMCG) recommendations. Variants will be classified based on
known, predicted, or possible pathogenicity and reported with interpretive comments detailing their
potential or known significance.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Germain DP: Fabry disease. Orphanet J Rare Dis. 2010 Nov 22;5:30 2.
Wang RY, Lelis A, Mirocha J, Wilcox WR: Heterozygous Fabry women are not just carriers, but have a
significant burden of disease and impaired quality of life. Genet Med 2007 Jan;9(1):34-35 3. Hwu WL,
Chien YH, Lee NC, et al: Newborn screening for Fabry disease in Taiwan reveals a high incidence of
the later-onset GLA mutation c.936+919G>A). Hum Mutat 2009:30(10):1397-1405 4. Richards CS,
Bale S, Bellissimo DB, et al: ACMG recommendations for standards for interpretation and reporting of
sequence variations: Revisions 2007. Genet Med 2008;10(4):294-300
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