Table 5.
Current clinically available genetic testing modalities for the diagnosis of familial cardiomyopathies.
| Gene affected | Description | Analysis performed† | Laboratories performing test‡ (n) |
|---|---|---|---|
| Arrhythmogenic right ventricular cardiomyopathy | |||
| DSC2 | Desmocollin-2 | 1, 7, 10 | 6 |
| DSG2 | Desmoglein-2 | 1, 7, 10 | 5 |
| DSP | Desmoplakin | 1, 2, 7 | 6 |
| JUP | Junction plakoglobin | 1 | 2 |
| PKP2 | Plakophilin-2 | 1, 5, 7, 10 | 9 |
| RYR2 | Ryanodine receptor 2 | 1, 3, 4, 10 | 4 |
| TGFB3 | TGFβ3 | 1 | 1 |
| TMEM43 | Transmembrane protein 43 | 1, 2, 7 | 7 |
| Left ventricular noncompaction cardiomyopathy§ | |||
| DTNA | Dystrobrevin α | 1, 6, 7 | 3 |
| LDB3 | Lim domain-binding protein 3 | 1, 7 | 2 |
| LMNA | Lamin-A/C | 1, 3–5, 7 | 17 |
| TAZ | Tafazzin | 1, 6, 7 | 3 |
| Dilated cardiomyopathy | |||
| ABCC9 | ATP-binding cassette | 1, 7 | 1 |
| ACTC1 | Actin, α cardiac muscle 1 | 1, 7 | 4 |
| ACTN2 | α-actinin 2 | 1, 7 | 1 |
| CSRP3 | Cysteine and glycine-rich protein 3 | 1, 7 | 1 |
| DES | Desmin | 1, 7 | 2 |
| DMD | Dystrophin | 1–10 | 37 |
| LDB3 | Lim domain-binding protein 3 | 1, 7 | 2 |
| LMNA | Lamin-A/C | 1, 3–5, 7 | 17 |
| MYBPC3 | Myosin-binding protein C, cardiac type | 1, 7, 10 | 6 |
| MYH7 | Myosin 7 | 1, 7, 10 | 8 |
| PLN | Cardiac phospholamban | 1, 7 | 1 |
| SCN5A | Sodium channel protein type 5, subunit α | 1, 5, 7, 10 | 8 |
| SGCD | Sarcoglycan, δ | 1, 7, 10 | 3 |
| TAZ | Tafazzin | 1, 6, 7 | 6 |
| TCAP | Telethonin | 1, 7 | 2 |
| TNNI3 | Troponin I, cardiac muscle | 1, 2, 6, 7, 10 | 6 |
| TNNT2 | Troponin T, cardiac muscle | 1, 2, 7, 10¶ | 8 |
| TPM1 | Tropomyosin α-1 chain | 1, 7, 10 | 4 |
| TTN | Titin | 2 | 1 |
| VCL | Vinculin | 1, 7 | 1 |
| Hypertrophic cardiomyopathy | |||
| ACTC1† | Actin, α cardiac muscle 1 | 1, 5, 7 | 6 |
| CSRP3† | Cysteine and glycine-rich protein 3 | ||
| MYBPC3† | Myosin-binding protein C, cardiac type | 1, 2, 5, 7, 10 | 11 |
| MYH7† | Myosin heavy chain 7, cardiac muscle, β | 1, 2, 5, 7, 10 | 10 |
| MYL2 | Myosin light chain 2, regulatory, cardiac, slow | 1, 5, 7 | 7 |
| MYL3 | Myosin light chain 3, ventricular, slow | 1, 5, 6, 7 | 8 |
| TCAP† | Telethonin | 1, 7 | 2 |
| TNNC1 | Troponin C, cardiac muscle | 1, 5, 7 | 2 |
| TNNI3† | Troponin I, cardiac muscle | 1, 2, 5, 7, 10 | 9 |
| TNNT2† | Troponin T, cardiac muscle | 1, 2, 5, 7, 10§ | 10 |
| TPM1† | Tropomyosin α-1 chain | 1, 5, 7, 10 | 8 |
| TTN† | Titin | 2 | 1 |
| Restrictive cardiomyopathy | |||
| TNNI3† | Troponin I, cardiac muscle | 1, 2, 5, 7, 10 | 3 |
Types of analysis: 1: Analysis of entire coding region; 2: Sequence analysis of select exons; 3: Linkage analysis.; 4: Mutation scanning of select exons; 5: Deletion, duplication analysis; 6: Carrier testing; 7: Prenatal diagnosis; 8: FISH-metaphase; 9: FISH-anaphase; 10: Mutation scanning of entire coding region.
Covered in multiple disease phenotypes. The currently available testing methods were compiled from GeneTests. The designation of clinically available was made if the laboratory self-reported as being either a US CLIA-licensed laboratory or a non-US clinical laboratory. Verification must be made directly with the laboratory.
Testing for left ventricular noncompaction cardiomyopathy would include MYH7 as well, although not noted in GeneTests.
Testing procedures appear to be different for TNNT2 depending on what phenotype they are ordered for. Verification must be made directly with the laboratories performing the analysis.
Data from [140].