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Comprehensive Cardiomyopathy NGS Panel

Diseases Targeted:

Cardiomyopathy
Arrhythmogenic Right Ventricular Cardiomyopathy
Dilated Cardiomyopathy
Hypertrophic Cardiomyopathy
Left Ventricular Noncompaction Cardiomyopathy

Overview:

The Comprehensive Cardiomyopathy Panel examines 129 genes associated with hereditary cardiomyopathies, including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), left ventricular non-compaction cardiomyopathy (LVNC), and hereditary arrhythmogenic right ventricular cardiomyopathy (ARVC).

Who is this test for?

Patients with a personal and/or family history suggestive of a hereditary cardiomyopathy. Red flags for hereditary cardiomyopathies can include, but are not limited to, episodes of chest pain, dizziness, fatigue, abnormal heart rate, shortness of breath, swelling of the extremities, and weight gain. Cardiomyopathies can affect patients of all ages.

What are the potential benefits for my patient?

Patients identified with a hereditary cardiomyopathy can benefit from increased surveillance and preventative steps to better manage their risks. Medical intervention can include lifestyle changes, medications, implantable devices, medical procedures, and surgery. Also, your patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in your patient, close relatives (children, siblings, parents) could have as high as a 50% risk to also be at increased risk. In some cases, screening should begin in childhood.

Order Options

Sequencing (included)
Del/Dup (included)

 

Genes

A2ML1, ABCC9, ACADVL, ACTC1, ACTN2, ADA2, AGL, AKAP9, ALMS1, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNB2, CALR3, CASQ2, CAV3, CAVIN4, CBL, CHRM2, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EYA4, FHL1, FHL2, FKRP, FKTN, FLNC, FXN, GAA, GATA4, GATA6, GATAD1, GLA, GPD1L, HCN4, HRAS, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MIB1, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NDUFB11, NEBL, NEXN, NF1, NKX2-5, NPPA, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RANGRF, RASA1, RBM20, RIT1, RRAS, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SDHA, SGCD, SHOC2, SLC22A5, SNTA1, SOS1, SOS2, SPRED1, TAZ, TBX20, TCAP, TGFB3, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, TXNRD2, VCL, YWHAE ( 129 genes )

Coverage:

96% at 20x

Specimen Requirements:

Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)

Test Limitations:

All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

Gene Specifics:

Gene Notes
FXN Only sequence variants and copy number changes in this gene are tested. Repeat expansion testing may be warranted if the clinical presentation of this patient is specific for a condition associated with this gene. The current testing method does not assess trinucleotide repeat expansions in this gene.

CPT Codes:

CPT Code 81439, 81442

NOTE: The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.

Resources

References:
- Beckmann, B.M., Pfeufer, A., & Kääb, S. Inherited cardiac arrhythmias: diagnosis, treatment, and prevention. Dtsch Arztebl Int. 2011 Sep;108(37):623-33 (2011)
Kimura, A. Molecular genetics and pathogenesis of cardiomyopathy. J Hum Genet. Jan;61(1):41-50 (2016)

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