• Test Code:
    1151
  • Department:
  • Test Synonyms:
    Dilated CardiomyopathyHypertrophic CardiomyopathyARVCLVNCCPVTRestrictive CardiomyopathyNoonanFamilial Aneurysm and AortopathyFabryLong / Short QTBrugada 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
  • 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 115 genes associated with 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 will analyze the exons or coding regions of 115 Comprehensive Cardiomyopathy-associated genes using Illumina NextSeq 500 technology.  Samples are prepared using hybridization probes to enrich exonic regions.  Promoter and intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function. Additionally, the assay does not assess coding regions with incomplete coverage some of which including regions of high homology (pseudogenes), regions of high GC content and polynucleotide repeats.

Coding region coverage for the Comprehensive Cardiomyopathy panel genes

Gene Name

Coverage

ABCC9, ACTA2, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, BAG3, CACNA1C, CACNB2, CALM1, CASQ2, CAV3, CBL, CBS, COL3A1, COL5A1, COL5A2, COX15, CRYAB, CSRP3, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FBN1, FBN2, FKTN, FLNA, GAA, GLA, GPD1L, HRAS, ILK, JUP, KCNE1, KCNE2, KCNE3, KCNJ2, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MED12, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NOTCH1, NRAS, OBSCN, PDLIM3, PKP2, PLN, PLOD1, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN3B, SCN4B, SCN5A, SCO2, SGCD, SHOC2, SLC2A10, SMAD3, SOS1, TAZ, TCAP, TGFB2, TGFB3, TGFBR2, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1,TRDN,TRPM4, TTN, TTR, VCL,

95%-100%

BRAF, SCN1B, SPRED1, TGFBR1, TXNRD2,

90%-95%

DES, FXN, GATAD1, HCN4, KCNH2, KCNQ1, SKI, SNTA1, SURF1

75%-90%

CTF1, JPH2

30%-75%

Coding regions below 95% may be covered upon request if further assessment of a gene is necessary (some exceptions may apply). Please contact Knight Diagnostic Laboratories for more information.

Related Tests: Knight Diagnostic Laboratories also offers smaller, focused panels:

Dilated Cardiomyopathy Panel
Hypertrophic Cardiomyopathy Panel
Arrhythmogenic Right Ventricular Cardiomyopathy Panel
Non-Compaction Arrhythmogenic Left Ventricular Cardiomyopathy Panel
Catecholaminergic Polymorphic Ventricular Tachycardia Panel
Restrictive Cardiomyopathy Panel
Noonan and Other Related Disorders Panel
Familial Aneurysm and Aortopathy Panel
Fabry Disease
Long QT Syndrome and Short QT Syndrome
Brugada Syndrome
TTR Sequencing

Specimen Requirements:

  • Genomic DNA: 5 to 7 µg at 100 ng/µL (EDTA must not be present)
  • 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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