• Test Code:
    1170
  • Department:
  • Test Synonyms:
    RCMACTC1BAG3CRYABDESMYBPC3MYH7TNNI3TNNT2TTR
  • CPT Code(s):
    8140481405x38140681407x281479x2
Background:

The inherited cardiomyopathies comprise a group of genetically heterogeneous diseases, the most common of which are hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and left ventricular non-compaction (LVNC).  These disorders have an impact across all age groups.  Overall, the prevalence of these disorders is estimated at approximately 1/500 (0.2%). 

Restrictive Cardiomyopathy (RCM) is rare form of cardiomyopathy characterized by restrictive ventricular physiology with abnormal diastolic function (systolic volumes may be normal or reduced). This next-generation sequencing test is designed to detect mutations in the coding region of 9 genes associated with Restrictive Cardiomyopathy.

Reasons for Referral:

  • Echocardiogram results suspicious for cardiomyopathy.
  • Clinical presentation consistent with Restrictive Cardiomyopathy.
  • Positive family history for Restrictive Cardiomyopathy (targeted testing is available if familial mutation is known).
  • Carrier testing.

Methodology:

Next generation sequencing using Illumina NextSeq 500 technology of the 9 Restrictive Cardiomyopathy -associated genes listed below:

Restrictive Cardiomyopathy (9 genes):  ACTC1, BAG3, CRYAB, DES, MYBPC3, MYH7, TNNI3, TNNT2, TTR

Specimen Requirements:

 Blood: EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

  1. Genetics Home Reference: http://ghr.nlm.nih.gov/condition/familial-restrictive-cardiomyopathy

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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