List of diseases covered by Hypertrophic Cardiomyopathy NGS panel

List 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

New 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

Hypertrophic 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

List of diseases covered by the panel


Price / TAT: 1314 EUR / 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
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: MYBPC3, MYH7, TNNT2

Lab method: MLPA

Price / TAT: 806 EUR / 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
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Determination of differential diagnosis
  3. Testing of at-risk family members
  4. 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.