Unit Code 89073:
Familial Hypercholesterolemia, LDLR Large Deletion/Duplication, Molecular Analysis
Useful For
Aiding in the diagnosis of familial hypercholesterolemia (FH)
in individuals with elevated untreated LDL cholesterol
Distinguishing the diagnosis of FH from other causes of
hyperlipidemia, such as familial defective ApoB-100 and
familial combined hyperlipidemia
Comprehensive LDL receptor genetic analysis for suspect FH
individuals who test negative for an LDLR point mutation by
sequencing (#81013 "Familial Hypercholesterolemia, LDLR Full
Gene Sequencing")
Testing Algorithm
When this test is ordered, DNA extraction will always be
performed at an additional charge.
Method Name
Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)
(PCR is utilized pursuant to a license agreement with Roche
Molecular Systems, Inc.)
Reporting Name
LDLR Large Del/Dup
Ordering Mnemonic
LDLM
Aliases
Cholesterol
FH
Gene Sequencing
Genotype
Hypercholesterolemia
LDL
LDLR
Low Density Lipoprotein
Sequencing
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