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Unit Code 81183:
Familial Hypercholesterolemia, LDLR Gene, Known Mutation

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Useful For

Genetic testing of individuals at risk for known LDLR familial

mutation(s)

Profile Information

 Unit Code  Reporting Name  Available Separately  Always Performed 
 80209  LDLR Gene, Known Mutation No Yes
 89123  LDLR Known Mutation Sequencing No Yes

Testing Algorithm

When this test is ordered, DNA extraction will always be

performed at an additional charge.

Method Name

#80209:  Site-Specific Gene Sequencing

#89123:  DNA Sequencing Analysis by Polymerase

Chain Reaction (PCR)

(PCR is utilized pursuant to a license agreement with

Roche Molecular Systems, Inc.)

Reporting Name

LDLR Gene, Known Mutation

Ordering Mnemonic

LDLRK

Aliases

Cholesterol

FH

Gene Sequencing

Genotype

Hypercholesterolemia

LDL

LDLR

Low Density Lipoprotein

Sequencing

Key