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Unit Code 81013:
Familial Hypercholesterolemia, LDLR Full Gene Sequencing

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Useful For

Aiding in the diagnosis of familial hypercholesterolemia (FH)

 

Distinguishing the diagnosis of FH from other causes of

hyperlipidemia, such as familial defective apoB-100 and familial

combined hyperlipidemia

Profile Information

 Unit Code  Reporting Name  Available Separately  Always Performed 
 80098  LDLR, Full Gene Sequence No Yes
 89124  LDLR Gene Sequencing No Yes

Testing Algorithm

When this test is ordered, a DNA extraction will always be

performed at an additional charge.

Method Name

#80098:  Full Gene Sequencing

#89124:  DNA Sequencing Analysis by Polymerase Chain

Reaction (PCR)

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name

LDLR, Full Gene Sequence

Ordering Mnemonic

LDLRS

Aliases

Cholesterol

FH

Gene Sequencing

Genotype

Hypercholesterolemia

LDL

LDLR

Low Density Lipoprotein

Sequencing


Key