Sorted By Test Name - Mayo Medical Laboratories

FABMS
88264
FABKM
88266
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
Fabry Disease, Known Mutation
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
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