Sorted By Test Name - Mayo Medical Laboratories

FD
85319
LDLRS
81013
features This test should be ordered only for individuals with symptoms suggestive of FAP.
Asymptomatic patients with a family history of FAP should not be tested until a mutation has been
identified in an affected family member.
Interpretation: An interpretive report will be provided.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. American Society of Clinical Oncology. American Society of Clinical
Oncology policy statement update: genetic testing for cancer susceptibility Clin Oncol.
2003;21:2397-2406 2. Half E, Bercovich D, Rozen P: Familial adenomatous polyposis. Orphanet J Rare
Dis. 2009 Oct 12;4:22 3. Croner RS, Brueckl WM, Reingruber B, et al: Age and manifestation related
symptoms in familial adenomatous polyposis. BMC Cancer 2005 Mar 2;5:24
Familial Dysautonomia, Mutation Analysis, IVS20(+6T->C) and
R696P
Clinical Information: Familial dysautonomia affects sensory, parasympathetic, and sympathetic
neurons. Patients experience gastrointestinal dysfunction, pneumonia, vomiting episodes, altered
sensitivity to pain and temperature, and cardiovascular problems. Progressive neuronal degeneration
continues throughout the lifespan. Mutations in the IKBKAP gene cause the clinical manifestations of
familial dysautonomia. The carrier rate in the Ashkenazi Jewish population is 1/31. There are 2 common
mutations in the Ashkenazi Jewish population: IVS20(+6)T->C and R696P. The carrier detection rate for
these 2 mutations is 99%.
Useful For: Carrier screening for individuals of Ashkenazi Jewish ancestry Prenatal diagnosis for
at-risk pregnancies Confirmation of a clinical diagnosis 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. Gold-von Simson G, Axelrod FB:
Familial dysautonomia: update and recent advances. Curr Probl Pediatr Adolesc Health Care 2006
Jul;36(6):218-237
Familial Hypercholesterolemia, LDLR Full Gene Sequencing
Clinical Information: Familial hypercholesterolemia (FH) is an autosomal dominant disorder that is
characterized by high levels of low-density lipoprotein (LDL) cholesterol and associated with premature
cardiovascular disease and myocardial infarction. FH is caused by mutations in the LDLR gene, which
encodes for the LDL receptor. LDLR mutations impair the ability of the LDL receptor to remove LDL
cholesterol from plasma via receptor-mediated endocytosis, leading to elevated levels of plasma LDL
cholesterol and subsequent deposition in the skin and tendons (xanthomas) and arteries (atheromas). FH
can occur in either the heterozygous or homozygous state, with 1 or 2 mutant LDLR alleles, respectively.
In general, FH heterozygotes have 2-fold elevations in plasma cholesterol and develop coronary
atherosclerosis after the age of 30. Homozygous FH individuals have severe hypercholesterolemia (>650
mg/dL) with the presence of cutaneous xanthomas prior to 4 years of age, childhood coronary heart
disease, and death from myocardial infarction prior to 20 years of age. Heterozygous FH is prevalent
among many different populations, with an approximate average worldwide incidence of 1 in 500
individuals, but as high as 1 in 67 to 1 in 100 individuals in some South African populations and 1 in 270
in the French Canadian population. Homozygous FH occurs at a frequency of approximately 1 in
1,000,000. Treatment is aimed at lowering plasma LDL levels and increasing LDL receptor activity.
Identification of LDLR mutation(s) in individuals suspected of having FH helps to determine appropriate
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