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Test Code LDLRS Familial Hypercholesterolemia, LDLR Full Gene Sequencing

Reporting Name

LDLR, Full Gene Sequence

Useful For

Aiding in the diagnosis of familial hypercholesterolemia (FH)

 

Distinguishing the diagnosis of FH from other causes of hyperlipidemia, such as familial defective apoB-100 and familial combined hyperlipidemia

Profile Information

Test ID Reporting Name Available Separately Always Performed
LDLRQ LDLR, Full Gene Sequence No Yes
LDLFQ LDLR Gene Sequencing No Yes

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.

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

81406-LDLR (low density lipoprotein receptor) (eg, familial hypercholesterolemia), full gene sequence

LOINC Code Information

Test ID Test Order Name Order LOINC Value
LDLRS LDLR, Full Gene Sequence In Process

 

Result ID Test Result Name Result LOINC Value
30381 Interpretation 69047-9
LDLMS Sequencing 56159-7
15598 Comment 48767-8
30382 Reviewed By No LOINC Needed
31628 Result 56159-7

Method Name

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

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

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 (T576) is available in Special Instructions.

3. If not ordering electronically, complete, print, and send a Cardiovascular Test Request Form (T724) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/cardiovascular-request-form.pdf).