Cardiomyopathy Panel

INDICATION-SPECIFIC GENE PANEL TESTING

CardiomyopathyPanel

 

 

Cardiomyopathy Panel

 

 

 

 

DETECTION ABILITIES:

  • This panel includes both full sequencing and high resolution deletion/duplication analysis.
  • Detection ability is limited to the genes specified; it does not provide whole genome analysis.
  • Gene panels are a more cost-effective approach than single gene testing to confirm or establish a diagnosis.

GENES COVERED:   Gene List

 

DISORDERS INCLUDED IN THIS PANEL:

  • Dilated cardiomyopathy (DCM) GeneReviews™
  • Hypertrophic cardiomyopathy (HCM)
  • Restrictive cardiomyopathy (RCM)
  • Left ventricular non-compaction (LVNC)
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC) GeneReviews™
  • Long QT
  • Brugada GeneReviews™
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT) GeneReviews

 

INDICATIONS FOR TESTING:

  • Early-onset cardiomyopathy
  • Clinical diagnosis of Hypertrophic cardiomyopathy (HCM)
  • Clinical diagnosis of Dilated cardiomyopathy (DCM) and significant cardiac conduction disease and/or family history of premature sudden death
  • Multiple generations affected with cardiomyopathy, arrhythmia, and/or sudden cardiac death
  • Targeted mutation analysis for a known familial mutation

OUR LABORATORY'S RECOMMENDED TESTING STRATEGY 

Comprehensive Testing:  Cardiomyopathy

Next Generation Sequencing Panel with reflex to Deletion/Duplication Analysis

Next Generation Sequencing

  • Next generation sequencing (NGS) analyzes multiple genes at once, making this a cost-effective method of testing many potentially causative genes simultaneously rather than Sanger sequencing one gene at a time.

Targeted Deletion/Duplication Testing

  • If sequencing is normal, Deletion/Duplication Analysis of the genes in this panel is performed to identify partial or whole gene deletions and duplications responsible for the patient’s phenotype. Deletion/Duplication Analysis only evaluates the genes included in this panel.

NOTE:  Each of the tests recommended for comprehensive testing can be ordered individually if the comprehensive package is not desired. For questions regarding testing strategies for your patient, please call our laboratory at 402-559-5070 and ask to speak with a laboratory genetic counselor.

  

REQUIRED FORMS:   Cardiology Test Request Form

This test can be ordered using the Postnatal Test Request Form, but we recommend using the Cardiology form which requires patient consent to include PSEN1 and PSEN2 gene analysis; two genes known to be linked to Alzheimer's disease.

OTHER FORMS:   Request for Pre-Authorization for Genetic Testing (Postnatal Diagnoses on peripheral blood)  


SPECIMEN COLLECTION & SHIPPING

SPECIMEN REQUIREMENTS: 

  • Blood >3 mo of age: 3-5 ml in an EDTA tube (purple top)
  • Blood (newborn minimum requirement): 1 ml in an EDTA tube (purple top)
  • Buccal swab*: kits available upon request
  • Extracted DNA: 5 μg 

*Buccal swabs may not yield an adequate amount of DNA for next generation sequencing. Please contact our laboratory before sending buccal swabs for this testing methodology.


CPT CODES: 

  • Next Generation Sequencing: 81407(x2)
  • Targeted Deletion/Duplication Testing: 81228 

PRICING:   Contact the laboratory billing staff for current costs. 


TURN-AROUND-TIME:   Results are typically available in ­2-6 weeks. 


LINKS and REFERENCES: 


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contact us
Phone:  402-559-5070 
1-800-656-3937 x95070
Fax:  402-559-7248
humangenetics@unmc.edu

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