Sorted By Test Name - Mayo Medical Laboratories

G6ST
80946
NAT2
83389
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transcription factor gene CHOP in myxoid liposarcomas with t(12;16)(q13;p11). Genes Chromosomes
Cancer 1992;5(4):278-285 3. Antonescu CR, Elahi A, Humphrey M, et al: Specificity of TLS-CHOP
rearrangement for classic myxoid/round cell liposarcoma: absence in predominantly myxoid
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N-Acetylgalactosamine-6-Sulfate Sulfatase, Fibroblasts
Clinical Information: Mucopolysaccharidosis IVA, (MPS IVA, Morquio A syndrome) is an
autosomal recessive lysosomal storage disorder caused by the reduced or absent
N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The mucopolysaccharidoses are a group of disorders
caused by the deficiency of any of the enzymes involved in the stepwise degradation of dermatan sulfate,
heparan sulfate, keratan sulfate, or chondroitin sulfate (glycosaminoglycans, GAGs). Accumulation of
GAGs (previously called mucopolysaccharides) in lysosomes interferes with normal functioning of cells,
tissues, and organs. Clinical features and severity of symptoms of MPS IVA are widely variable, but may
include skeletal dysplasia, short stature, dental anomalies, corneal clouding, respiratory insufficiency, and
cardiac disease. Intelligence is usually normal. Estimates of the incidence of Morquio A syndrome range
from 1 in 200,000 to 1 in 300,000 live births. A diagnostic workup in an individual with MPS IVA
typically demonstrates elevated levels of urinary GAGs and increased keratan sulfate and
chondroitin-6-sulfate detected on thin-layer chromatography. Morquio B is a genetically distinct disorder
caused by a deficiency of beta-galactosidase and has a significant number of overlapping clinical features
with Morquio A. Enzyme analysis is necessary to distinguish between the 2 types. Reduced or absent
activity of N-acetylgalactosamine-6-sulfate sulfatase enzyme in leukocytes and/or fibroblasts can confirm
a diagnosis of MPS IVA. Sequencing of the GALNS gene allows for detection of disease-causing
mutations in affected patients and identification of familial mutations allows for testing of at-risk family
members.
Useful For: Assisting in the diagnosis of Morquio A disease
Interpretation: Values