• Test Code:
    1260
  • Department:
  • Test Synonyms:
    ABCC9ACTC1ACTN2ANKRD1BAG3CRYABCSRP3DESDMDDSG2DSPEMDEYA4FKTNGATAD1ILKLAMA4LAMP2LDB3LMNAMYBPC3MYH6MYH7MYPNNEBLNEXNPDLIM3PKP2PLNRAF1RBM20SCN5ASGCDTAZTCAPTMPOTNNC1TNNI3TPM1TTNTXNRD2VCL
  • CPT Code(s):
    81439
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%).  This next-generation sequencing test is designed to detect mutations in the coding region of 44 genes associated with dilated cardiomyopathy.

Reasons for Referral:

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

Methodology:

Next generation sequencing using Illumina NextSeq 500 technology of the 43 dilated cardiomyopathy-associated genes listed below:

Dilated Cardiomyopathy

ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSG2, DSP, EMD, EYA4, FKTN, GATAD1, ILK, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PDLIM3, PKP2, PLN, RAF1, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN,TXNRD2, VCL

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:

Eight 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:

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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