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Test Code LDLM Familial Hypercholesterolemia, LDLR Large Deletion/Duplication, Molecular Analysis

Reporting Name

LDLR Large Del/Dup

Useful For

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 variant by sequencing (LDLRS / Familial Hypercholesterolemia, LDLR Full Gene Sequencing)

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Whole Blood EDTA


Specimen Required


Multiple cardiovascular-related gene sequencing tests can be performed on a single specimen after a single extraction. See Multiple Cardiovascular-Related Gene Sequencing Tests in Special Instructions for a list of tests that can be ordered together.

 

Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions: Send specimen in original tube.

Additional Information: Include physician name and phone number with the specimen.

Forms:

1. Familial/Autosomal Dominant Hypercholesterolemia Patient Information (T637) is required in Special Instructions

2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.


Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood EDTA Ambient (preferred)
  Refrigerated 

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Varies

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81405-LDLR (low density lipoprotein receptor) (eg, familial hypercholesterolemia), duplication/deletion analysis

LOINC Code Information

Test ID Test Order Name Order LOINC Value
LDLM LDLR Large Del/Dup 69486-9

 

Result ID Test Result Name Result LOINC Value
28486 Interp 69047-9
15598 Comment 48767-8
28487 Reviewed By No LOINC Needed
31629 Result 69486-9

Method Name

Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

Testing Algorithm

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

Barnes-Jewish Hospital Additional Information:
For BJH Laboratory Use Only
Laboratory Processing Instructions:
BJH Molecular Diagnostics will forward to the performing laboratory.