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Test ID: ADHP    
Familial Hypercholesterolemia/Autosomal Dominant Hypercholesterolemia Genetic Testing Reflex Panel

Secondary ID A test code used for billing and in test definitions created prior to November 2011

83375

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Conditional

Useful For Suggests clinical disorders or settings where the test may be helpful

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

Profile Information A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.

Test IDReporting NameAvailable SeparatelyAlways Performed
ADHIFH/ADH Genetic InterpretationNoYes
APOBPAPOB GenotypeYes, (order APOB)Yes

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
LDLMPLDLR Large Del/DupYes, (order LDLM)No
LDLSPLDLR, Full Gene SequenceYes, (order LDLRS)No

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

If APOB genotype is negative, LDLSP / Familial Hypercholesterolemia, LDLR Full Gene Sequencing will be performed at an additional charge.

 

If LDLR full gene sequence is negative, LELMP / Familial Hypercholesterolemia, LDLR Large Deletion/Duplication, Molecular Analysis will be performed at an additional charge.

 

See Familial/Autosomal Dominant Hypercholesterolemia Diagnostic Algorithm in Special Instructions.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

APOBP: Polymerase Chain Reaction (PCR) with Allele-Specific Primer Extension (ASPE)

LDLPQ: DNA Sequencing Analysis by Polymerase Chain Reaction (PCR)

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

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

FH/ADH Genetic Reflex Panel

Aliases Lists additional common names for a test, as an aid in searching

APOB-100
Cholesterol
Familial Defective APOB-100
Familial Hypercholesterolemia
FDB
FH (Familial Hypercholesterolemia)
Gene Sequencing
Genotype
Hypercholesterolemia
LDL
LDLR
Low Density Lipoprotein
Sequencing