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
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 ID | Secondary ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|---|
| ADHI | 29282 | FH/ADH Genetic Interpretation | No | Yes |
| APOBP | 29283 | APOB Genotype | Yes, (order #89097) | 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 ID | Secondary ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|---|
| LDLMP | 29285 | LDLR Large Del/Dup | Yes, (order #89073) | No |
| LDLSP | 29284 | LDLR, Full Gene Sequence | Yes, (order #81013) | No |
| LDLPQ | 29286 | LDLR Gene Sequencing | No | No |
Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)
| Test ID | Test Number | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|---|
| EXCVM | 26968 | DNA Extraction, NPL | No | Yes |
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, DNA extraction will always be performed at an additional charge.
If APOB genotype is negative, LDLSP/29284 Familial Hypercholesterolemia. LDLR Full Gene Sequencing and LDLPQ/29286 LDLR Gene Sequencing will be performed at an additional charge.
If LDLR full gene sequence is negative, LELMP/29285 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/29283: Polymerase Chain Reaction (PCR) with Allele-Specific Primer Extension (ASPE)
LDLSP/29284: Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis
LDLMP/29285: Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)
LDLPQ/29286: 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
Aliases Lists additional common names for a test, as an aid in searching
Cholesterol
Familial Defective APOB-100
Familial Hypercholesterolemia
FDB
FH (Familial Hypercholesterolemia)
Gene Sequencing
Genotype
Hypercholesterolemia
LDL
LDLR
Low Density Lipoprotein
Sequencing
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