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Test Code ADHP Familial Hypercholesterolemia/Autosomal Dominant Hypercholesterolemia Genetic Testing Reflex Panel

Reporting Name

FH/ADH Genetic Reflex Panel

Useful For

Aiding in the diagnosis of familial hypercholesterolemia defective apoB-100 in individuals with elevated, untreated low-density lipoprotein 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

Test ID Reporting Name Available Separately Always Performed
ADHI FH/ADH Genetic Interpretation No Yes
APOBP APOB Genotype No Yes

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
LDLMP LDLR Large Del/Dup Yes, (order LDLM) No
LDLSP LDLR, Full Gene Sequence Yes, (order LDLRS) No

Testing Algorithm

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, LDLMP / 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.

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Whole Blood EDTA


Additional Testing Requirements


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.



Necessary Information


Include physician's name and phone number with the specimen.



Specimen Required


Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions: Send specimen in original tube.


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

CPT Code Information

81401-APOB gene

81479-LDLR gene (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
ADHP FH/ADH Genetic Reflex Panel 56752-9

 

Result ID Test Result Name Result LOINC Value
29283 APOB Genotype (Result) 73748-6
29282 FH/ADH Genetic Interpretation 69047-9
29286 Reviewed By No LOINC Needed

Method Name

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

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).