Genomic Unity® Cardiomyopathy and Arrhythmia Analysis

UO007

Genomic Unity® Cardiomyopathy and Arrhythmia Analysis is a diagnostic test designed to identify genetic variants that cause cardiomyopathy and/or arrhythmia.

Test Description

Genomic Unity® Cardiomyopathy and Arrhythmia Analysis is a targeted test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. This targeted test focuses on >100 genes associated with cardiomyopathy and/or arrhythmia.

Genomic Unity® Cardiomyopathy and Arrhythmia Analysis provides a single, unified clinical report that replaces a battery of tests including: targeted gene panel, single gene analysis and multiplex ligation dependent probe amplification (MLPA), as well as PCR and southern blot tests for short tandem repeat expansions.

When to Order

Order this test when clinical symptoms are consistent with inherited cardiomyopathy and/or arrhythmia.

Included Genes

ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, ANK2, BAG3, BRAF, CACNA1C, CACNA1D, CALM1, CALM2, CALM3, CASQ2, CAV3, CBL, CNBP, CPT2, CSRP3, DES, DMD, DMPK, DNAJC19, DOLK, DSC2, DSG2, DSP, ELAC2, EMD, EYA4, FHL1, FHOD3, FKRP, FKTN, FLNC, FXN, GAA, GATA4, GATA6, GLA, HAND1, HCN4, HRAS, JPH2, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KLHL24, KRAS, LAMP2, LMNA, LZTR1, MAP2K1, MAP2K2, MRAS, MTO1, MYBPC3, MYH7, MYL2, MYL3, MYLK3, NEXN, NF1, NKX2-5, NRAS, PCCA, PCCB, PKP2, PLN, PPA2, PPCS, PPP1CB, PPP1R13L, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAS2, RYR2, SCN5A, SHOC2, SLC4A3, SOS1, SOS2, SPEG, SPRED1, TAZ, TBX20, TECRL, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, VCL

Included Analyses

  • Sequence analysis of cardiomyopathy and arrhythmia-associated genes including: single nucleotide variants, deletions, insertions, and characterized intronic variants.
  • Copy number variant analysis of cardiomyopathy and arrhythmia-associated genes including: duplications/deletions, mobile element insertions, and inversions.
  • Short tandem repeat (STR) analysis of the CNBP, DMPK, and FXN genes. (Learn more).

Optionally includes:

Note:

Turnaround Time

A report will be issued within 4 weeks. Turnaround time begins when samples and all required documents and approvals are received.

Sample Types

CPT Codes

81413, 81414, 81439

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Methods and Limitations

Genomic Unity® Cardiomyopathy and Arrhythmia Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.

SNVs:
99.9% sensitivity
99.9% specificity
99.8% positive predictive value

Structural variants:
96% clinical sensitivity

Short tandem repeats:
The false negative rate for repeat expansions has not been determined.

Test limitations:
The BRAF, EMD, KCNE1, KCNQ1, and TAZ genes are not fully covered by this test, therefore not all pathogenic variants may be detected. The KCNE1 and TTN (NM_001267550, exons 175-197) genes contain regions that are non-unique, therefore not all variants can be assigned to the correct location, limiting interpretation. Sensitivity for FLNC gene (NM_001458.5) exons 47–48 is reduced due to the presence of segmental duplication. TTN gene heterozygous missense and NFS-INDEL variants are not typically included in this test. Short tandem repeats are not reported in the CBL gene.