Sorted By Test Name - Mayo Medical Laboratories

FANCA
85318
FATF
8310
separately ordered: -LDLRS/81013 Familial Hypercholesterolemia, LDLR Full Gene Sequence
-LDLM/89073 Familial Hypercholesterolemia, LDLR Large Deletion/Duplication, Molecular Analysis
-APOB/89097 Apolipoprotein B-100 Molecular Analysis, R3500Q and R3500W See Familial/Autosomal
Dominant Hypercholesterolemia Diagnostic Algorithm in Special Instructions.
Useful For: Aiding in the diagnosis of familial hypercholesterolemia defective apoB-100 in individuals
with elevated, untreated LDL cholesterol concentrations Distinguishing the diagnosis of autosomal
dominant hypercholesterolemia from other causes of hyperlipidemia, such as familial combined
hyperlipidemia Genetic evaluation of hypercholesterolemia utilizing a cost-effective, reflex-testing
approach
Interpretation: An interpretive report will be provided.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Hobbs H, Brown MS, Goldstein JL: Molecular genetics of the LDL receptor
gene in familial hypercholesterolemia. Hum Mut 1992;1:445-466 2. Goldstein JL, Hobbs H, Brown MS:
Familial hypercholesterolemia. In The Metabolic Basis of Inherited Disease. Edited by CR Scriver, AL
Beaudet, D Valle, WS Sly. New York, McGraw-Hill Book Company, 2006 pp 2863-2913 3. Whitfield
AH, Barrett PHR, Van Bockxmeer FM, Burnett JR: Lipid disorders and mutations in the APOB gene.
Clin Chem 2004;50:1725-1732 4. Innerarity TL, Mahley RW, Weisgraber KH, et al: Familial defective
apolipoprotein B100: a mutation of apolipoprotein B that causes hypercholesterolemia. J Lipid Res
1990;31:1337-1349
Fanconi Anemia C Mutation Analysis, IVS4(+4)A->T and
322delG
Clinical Information: Fanconi anemia is an aplastic anemia that leads to bone marrow failure and
myelodysplasia or acute myelogenous leukemia. Physical findings include short stature; upper limb, lower
limb, and skeletal malformations; and abnormalities of the eyes and genitourinary tract. The proteins
encoded by the genes associated with Fanconi anemia may work together to repair DNA damage.
Mutations in several genes have been associated with Fanconi anemia, although 1 mutation,
IVS4(+4)A->T in the FANCC gene has been shown to be common in the Ashkenazi Jewish population.
The carrier rate in the Ashkenazi Jewish population is 1/89 and the detection rate for this mutation using
this assay is >99%. A second FANCC mutation, 322delG, is overrepresented in patients of Northern
European ancestry.
Useful For: Carrier screening for individuals of Ashkenazi Jewish ancestry Prenatal diagnosis for
at-risk pregnancies Confirmation of suspected clinical diagnosis of Fanconi anemia 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):54-6 2. Kutler DI, Auerbach AD: Fanconi anemia
in Ashkenazi Jews. Fam Cancer 2004;3(3-4):241-248
Fat, Feces
Clinical Information: Fecal lipids include monoglycerides, diglycerides, triglycerides,
phospholipids, glycolipids, soaps, sterols, cholesteryl esters, and sphingolipids. Steatorrhea (increased
fecal excretion of fat) may reflect a number of pancreatic or intestinal disorders, including chronic
pancreatitis with or without stone obstruction, cystic fibrosis, neoplasia, Whipple disease, regional
enteritis, tuberculous enteritis, gluten-induced enteropathy (celiac disease), Giardia-associated
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