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

9831
MCIV
85321
MPSSC
84464
disorder with vascular disease and thrombosis. Thromb Res 1993 September 1;71(5):337-359 2. Frosst
P, Blom HJ, Milos R, et al: A candidate genetic risk factor for vascular disease: a common mutation in
methylenetetrahydrofolate reductase. Nat Genet 1995 May;10(1):111-113 3. Kluijtmans LA, van den
Heuvel LP, Boers GH, et al: Molecular genetic analysis in mild hyperhomocysteinemia: a common
mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular
disease. Am J Hum Genet 1996 January;58(1):35-41 4. Ma J, Stampfer MJ, Hennekens CH, et al:
Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of
myocardial infarction in US physicians. Circulation 1996 November 15;94(10):2410-2416 5.
Deloughery TG, Evans A, Sadeghi A, et al: Common mutation in methylenetetrahydrofolate reductase.
Correlation with homocysteine metabolism and late-onset vascular disease. Circulation 1996 December
15;94(12):3074-3078 6. Christensen B, Frosst P, Lussier-Cacan S, et al: Correlation of a common
mutation in the methylenetetrahydrofolate reductase gene with plasma homocysteine in patients with
coronary disease. Arteroscler Thromb Vasc Biol 1997 March;17(3):569-573
Mucicarmine Stain for Mucin
Reference Values:
The laboratory will provide a pathology consultation and stained slide.
Mucolipidosis IV, Mutation Analysis, IVS3(-2)A->G and del6.4kb
Clinical Information: Mucolipidosis IV is a lysosomal storage disease characterized by mental
retardation, hypotonia, corneal clouding, and retinal degeneration. Mutations in the MCOLN1 gene are
responsible for the clinical manifestations of mucolipidosis IV. The carrier rate in the Ashkenazi Jewish
population is 1/127. Two mutations in the MCOLN1 gene account for the majority of mutations in the
Ashkenazi Jewish population: IVS3(-2)A->G and del6.4kb. The detection rate for these 2 mutations is
approximately 95%.
Useful For: Carrier testing for individuals of Ashkenazi Jewish ancestry Prenatal diagnosis for at-risk
pregnancies Confirmation of suspected clinical diagnosis of mucolipidosis IV in individuals of Ashkenazi
Jewish ancestry
Interpretation: An interpretive report will be provided.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Gross SJ, Pletcher BA, Monaghan KG: Carrier screening in individuals of
Ashkenazi Jewish descent. Genet Med. 2008 Jan;10(1):54-56 2. Bach G: Mucolipidosis type IV. Mol
Genet Metab 2001;73(3):197-203
Mucopolysaccharides (MPS) Screen, Urine
Clinical Information: The mucopolysaccharidoses (MPSs) 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). Undegraded or partially
degraded GAGs (also called mucopolysaccharides) are stored in lysosomes and excreted in the urine.
Accumulation of GAGs in lysosomes interferes with normal functioning of cells, tissues, and organs
resulting in the clinical features observed in MPS disorders. There are 11 known enzyme deficiencies that
result in MPSs. In addition, abnormal GAG storage is observed in multiple sulfatase deficiency and in
I-cell disease. Finally, an abnormal excretion of GAGs in urine is observed occasionally in other disorders
including active bone diseases, connective tissue disease, hypothyroidism, urinary dysfunction, and
oligosaccharidoses. MPSs are autosomal recessive disorders with the exception of MPS II, which follows
an X-linked inheritance pattern. Affected individuals typically experience a period of normal growth and
development followed by progressive disease involvement encompassing multiple systems. The severity
and features vary, and may include facial coarsening, organomegaly, skeletal changes, cardiac
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