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Test Code HCMGG Hypertrophic Cardiomyopathy Gene Panel, Varies


Ordering Guidance


This test is intended for genetic screening for and diagnosis of hypertrophic cardiomyopathy.

For comprehensive cardiomyopathy genetic testing, order CCMGG / Comprehensive Cardiomyopathy Gene Panel, Varies.

 

Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH/ Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.

 

Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Necessary Information


Prior Authorization is available, but not required, for this test. If proceeding with the prior authorization process, submit the required form with the specimen.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file.

The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Hereditary Cardiomyopathies and Arrhythmias Patient Information

3. Hypertrophic Cardiomyopathy Panel (HCMGG) Prior Authorization Ordering Instructions

4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request Form (T724) with the specimen.

Useful For

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of hypertrophic cardiomyopathy

 

Establishing a diagnosis of a hereditary form of hypertrophic cardiomyopathy

Method Name

Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

Hypertrophic Cardiomyopathy Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(3) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Ommen SR, Mital S, Burke MA, et al: 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: Executive Summary: a report of the American College of Cardiology/American Heart Association Joint Committee on clinical practice guidelines. Circulation. 2020;142(25):e533-e557. doi: 10.1161/CIR.0000000000000938

2. Authors/Task Force members, Elliott PM, Anastasakis A, et al: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014 Oct;35(39):2733-2779. doi: 10.1093/eurheartj/ehu284

3. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424. doi: 10.1038/gim.2015.30

Day(s) Performed

Varies

Report Available

14 to 28 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

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

CPT Code Information

81439

LOINC Code Information

Test ID Test Order Name Order LOINC Value
HCMGG Hypertrophic Cardiomyopathy Panel 81860-9

 

Result ID Test Result Name Result LOINC Value
617282 Test Description 62364-5
617283 Specimen 31208-2
617284 Source 31208-2
617285 Result Summary 50397-9
617286 Result 82939-0
617287 Interpretation 69047-9
617288 Additional Results 82939-0
617289 Resources 99622-3
617290 Additional Information 48767-8
617291 Method 85069-3
617292 Genes Analyzed 48018-6
617293 Disclaimer 62364-5
617294 Released By 18771-6