Updated version of Hypertrophic Cardiomyopathy gene panel is now available. Learn more about added genes and related conditions at www.asperbio.com/hypertrophic-cardiomyopathy/NGS-panel
List of diseases covered by Hypertrophic Cardiomyopathy NGS panel
Published 25/07/2018List of diseases covered by
Hypertrophic Cardiomyopathy NGS panel
| Gene | Condition |
| ACTC1 | Atrial septal defect 5; Cardiomyopathy, dilated, 1R; Cardiomyopathy, hypertrophic, 11 |
| ACTN2 | Cardiomyopathy, dilated, 1AA, with or without LVNC |
| AGK | Sengers syndrome; Cataract 38, autosomal recessive |
| CALR3 | Cardiomyopathy, hypertrophic, 19 |
| CAV3 | Familial hypertrophic cardiomyopathy 1; Long QT syndrome 9 |
| CRYAB | Cardiomyopathy, dilated, 1II; Cataract 16, multiple types; Myopathy, myofibrillar, 2; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related |
| CSRP3 | Cardiomyopathy, dilated, 1M; Cardiomyopathy, hypertrophic, 12 |
| FLNC | Cardiomyopathy, familial restrictive 5; Myopathy, distal, 4; Myopathy, myofibrillar, 5 |
| GLA | Fabry disease, cardiac variant |
| JPH2 | Cardiomyopathy, hypertrophic, 17 |
| LAMP2 | Danon disease |
| LDB3 | Cardiomyopathy, dilated, 1C, with or without LVNC; Myopathy, myofibrillar, 4 |
| MYBPC3 | Cardiomyopathy, dilated, 1MM; Cardiomyopathy, hypertrophic, 4 |
| MYH6 | Atrial septal defect 3; Cardiomyopathy, dilated, 1EE; Cardiomyopathy, hypertrophic, 14 |
| MYH7 | Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Laing distal myopathy; Myopathy, myosin storage, autosomal dominant; Myopathy, myosin storage, autosomal recessive; Scapuloperoneal syndrome, myopathic type |
| MYL2 | Cardiomyopathy, hypertrophic, 10 |
| MYL3 | Cardiomyopathy, hypertrophic, 8 |
| MYLK2 | Cardiomyopathy, hypertrophic, 1, digenic |
| MYOZ2 | Cardiomyopathy, hypertrophic, 16 |
| MYPN | Cardiomyopathy, dilated, 1KK; Nemaline myopathy 11, autosomal recessive |
| NEXN | Cardiomyopathy, dilated, 1CC; Cardiomyopathy, hypertrophic, 20 |
| PLN | Dilated cardiomyopathy 1P; Familial hypertrophic cardiomyopathy 18 |
| PRKAG2 | Cardiomyopathy, hypertrophic 6; Glycogen storage disease of heart, lethal congenital; Wolff-Parkinson-White syndrome |
| RAF1 | Cardiomyopathy, dilated, 1NN; LEOPARD syndrome 2; Noonan syndrome 5 |
| SLC25A4 | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 |
| SOS1 | Noonan syndrome 4; |
| TCAP | Cardiomyopathy, hypertrophic, 25; Muscular dystrophy, limb-girdle, type 2G |
| TNNC1 | Cardiomyopathy, dilated, 1Z; Cardiomyopathy, hypertrophic, 13 |
| TNNI3 | Cardiomyopathy, dilated, 2A; Cardiomyopathy, dilated, 1FF; Cardiomyopathy, familial restrictive, 1; Cardiomyopathy, hypertrophic, 7 |
| TNNT2 | Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial restrictive, 3; Cardiomyopathy, hypertrophic, 2 |
| TPM1 | Cardiomyopathy, dilated, 1Y; Cardiomyopathy, hypertrophic, 3 |
| TTN | Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9; Muscular dystrophy, limb-girdle, type 2J; Myopathy, proximal, with early respiratory muscle involvement; Salih myopathy; Tibial muscular dystrophy, tardive |
| TTR | Amyloidosis, hereditary, transthyretin-related; Carpal tunnel syndrome, familial |
| VCL | Cardiomyopathy, dilated, 1W; Cardiomyopathy, hypertrophic, 15 |
Hypertrophic Cardiomyopathy panel now available
Published 16/03/2016New NGS panel enables analysis of 28 genes known to be associated with hypertrophic cardiomyopathy. The testing panel helps clinicians to identify causative mutations in families meeting diagnostic criteria, and also provides assistance in making differential diagnosis to distinguish hypertrophic cardiomyopathy from other cardiac conditions. Details of the test at https://www.asperbio.com/asper-cardiogenetics/hypertrophic-cardiomyopathy.
Hypertrophic Cardiomyopathy NGS panel
Published 14/03/2016Hypertrophic Cardiomyopathy
NGS panel
| Genes (full coding region): |
ACTC1, ACTN2, AGK, ANKRD1, CALR3, CAV3, CRYAB, CSRP3, FLNC, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PDLIM3, PLN, PRKAG2, RAF1, SLC25A4, SOS1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
Deletion/duplication analysis
| Genes: | BAG3, MYBPC3, MYH7, TNNT2 |
| Lab method: | MLPA |
| TAT: | 4-6 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
Indications for genetic testing:
- Confirmation of clinical diagnosis
- Determination of differential diagnosis
- Testing of at-risk family members
- Genetic counseling
Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of left ventricular hypertrophy (LVH) that is not solely explained by abnormal loading conditions. HCM is a significant cause of sudden cardiac death in competitive athletes. The clinical features of HCM are highly variable ranging from asymptomatic LVH to arrhythmias, to refractory heart failure. The symptoms include shortness of breath, orthostasis, presyncope, syncope, palpitations, and chest pain.
The prevalence in the general population is estimated at 1/500.
HCM is most commonly caused by mutations in one of the genes that encode different components of the sarcomere and is inherited in an autosomal dominant manner. In 3–5% of the cases affected individuals carry two mutations in the same gene (compound heterozygous or homozygous), or in different genes (digenic). This is associated with a more severe phenotype with younger age of onset and more adverse events.
References:
Cirino AL and Ho C. Hypertrophic Cardiomyopathy Overview. GeneReviews®. 2008 August 5 (Updated 2014 Jan 16)
Elliott PM et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy. European Heart Journal (2014) 35, 2733–2779.
Maron BJ. Sudden death in young athletes. N Engl J Med. 2003;349:1064–75.
Richard P et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003; 107: 2227–2232.
Richard P et al. Homozygotes for a R869G mutation in the beta-myosin heavy chain gene have a severe form of familial hypertrophic cardiomyopathy. J Mol Cell Cardiol 2000; 32: 1575–1583.