Test ID: LDLM
Familial Hypercholesterolemia, LDLR Large Deletion/Duplication, Molecular Analysis
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
89073
Useful For Suggests clinical disorders or settings where the test may be helpful
Aiding in the diagnosis of familial hypercholesterolemia (FH) in individuals with elevated untreated low-density lipoprotein (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 (LDLRS/81013 Familial Hypercholesterolemia, LDLR Full Gene Sequencing)
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.
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
Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)
(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
LDLR Large Del/Dup
Aliases Lists additional common names for a test, as an aid in searching
Cholesterol
Familial Hypercholesterolemia (FH)
FH
FH (Familial Hypercholesterolemia)
Gene Sequencing
Genotype
Hypercholesterolemia
LDL
LDLR
Low Density Lipoprotein
Sequencing
Familial Hypercholesterolemia (FH)
FH
FH (Familial Hypercholesterolemia)
Gene Sequencing
Genotype
Hypercholesterolemia
LDL
LDLR
Low Density Lipoprotein
Sequencing
External
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PDF
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Excel
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