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Cardiomyopathy and Arrhythmia Deletion/Duplication, 83 Genes 
2010760
Ordering Recommendation

Use if sequencing does not detect a mutation or to assess for a known familial deletion/duplication. This is a second tier test and REQUIRES PERMISSION from ARUP's Genetic Counselor (800-242-2787, x 2141) before ordering.

Mnemonic
CARDIACDD
Methodology
Exonic Oligonucleotide-based CGH Microarray
Performed
Varies
Reported
3-4 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA) or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Refer to report.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Components
Component Test Code*Component Chart NameLOINC
2010761Cardiomyopathy/Arrhythmia DelDup Spcm31208-2
2010762Cardiomyopathy/Arrhythmia DelDup Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CORIN, COX15, CSRP3, CTF1
  • Arrhythmogenic right vernticular cardiomyopathy (ARVC)
  • Brugada syndrome (BrS)
  • catecholaminergic polymorphic ventricular tachycardia (CPVT)
  • DES, DMD, DSC2, DSG2, DSP, DTNA, EYA4, FKRP, FKTN, FXN, GAA, GLA, GPD1L, ILK, JPH2, JUP, KCNE1, KCNE
  • Dilated cardiomyopathy (DCM),
  • Hypertrophic cardiomyopathy (HCM),
  • KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL3, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYH10, MYL2
  • Left ventricular noncompaction (LVNC)
  • Long QT syndrome (LQTS)
  • MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, OBSCN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B
  • Romano-Ward
  • SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, SYNE1, TCAP, TGFB3, TMEM43, TMPO, TNNC1,
  • Short QT syndrome (SQTS)
  • TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, VCL