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Test Code HCMGP Hypertrophic Cardiomyopathy Multi-Gene Panel, Blood

Useful For

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hypertrophic cardiomyopathy (HCM)

 

Establishing a diagnosis of a hereditary HCM, and in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved

 

Identifying a pathogenic variant within a gene known to be associated with disease that allows for predictive testing of at-risk family members

Reporting Name

Hypertrophic Cardiomyopathy Panel,B

Specimen Type

Whole Blood EDTA


Advisory Information


Targeted testing for familial variants (also called site-specific or known mutation testing) is available for the genes on this panel. See:

-KVAR1 / Known Variant Analysis-1 Variant, Varies

-KVAR2 / Known Variant Analysis-2 Variants, Varies

-KVAR3 / Known Variant Analysis-3+ Variants, Varies

 

Call 800-533-1710 to confirm the appropriate test for targeted testing.



Necessary Information


1. Hereditary Cardiomyopathies and Arrhythmias: Patient Information (T725) is required, see Special Instructions. Testing may proceed without the patient information however it aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to complete the form and send it with the specimen.

2. Include physician name and phone number with specimen.



Specimen Required


Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions: Send specimen in original tube.

Additional Information: Prior Authorization is available for this test. Submit the required form with the specimen.


Specimen Minimum Volume

1 mL

Specimen Stability Information

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

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Monday; Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81439

LOINC Code Information

Test ID Test Order Name Order LOINC Value
HCMGP Hypertrophic Cardiomyopathy Panel,B In Process

 

Result ID Test Result Name Result LOINC Value
36806 Gene(s) Evaluated 48018-6
36807 Result Summary 50397-9
36808 Result Details 82939-0
36809 Interpretation 69047-9
36944 Additional Information 48767-8
36945 Method 49549-9
36946 Disclaimer 62364-5
36810 Reviewed by 18771-6

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.

Method Name

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

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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

3. Hypertrophic Cardiomyopathy Multi-Gene Panel Prior Authorization Ordering Instructions in Special Instructions

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