| Oct 30, 2009: GENDIA now offers a next-generation sequencing platform for the molecular diagnosis of Familial Cardiomyopathy.
This platform is directly sequencing single DNA molecules with the Helicos' True Single Molecule Sequencing (tSMS)™ technology.
The platform detects mutations in:
> 65% of Hypertrophic Cardiomyopathy (HCM)
> 40% of Dilated Cardiomyopathy (DCM)
> 50% of Arrhythmogenic Right Ventricular Dysplasia (ARVD) / Cardiomyopathy
> 10% of other Cardiomyopathies (restrictive, left ventricular non-compaction)
with sequencing of the following 57 genes:
- ABCC9 gene encoding ATP-binding cassette, subfamily c, member 9
- ACTC1 gene encoding cardiac actin
- ACTN2 gene encoding actinin, alpha-2, ALMS1 gene encoding Alstrom syndrome protein
- APOA1 gene encoding apolipoprotein A1
- CAV3 gene encoding caveolin 3
- CSRP3 gene encoding cysteine- and glycine-rich protein 3
- CTF1 gene encoding cardiotrophin
- DES gene encoding desmin
- DNAJC19 gene encoding DNAJ/HSP40 homolog, subfamily c, member 19
- DSC2 gene encoding desmocollin-2
- DSG2 gene encoding desmoglein-2
- DSP gene encoding desmoplakin
- DTNA gene encoding dystrobrevin, alpha
- EMD gene encoding emerin
- FKTN gene encoding fukutin
- GLA gene encoding alpha galactosidase
- HOPX gene encoding hop homeobox
- JUP gene encoding junction plakoglobin
- LAMP2 gene encoding lysosome-associated membrane protein 2
- LDB3 gene encoding lim domain-binding 3
- LMNA gene encoding lamin A/C
- MTND1, MTND5, and MTND6 gene encoding 3 Mitochondrial complex 1 subunits ND1, ND5 and ND6
- MTTG, MTTI, MTTL1, MTTQ, MTTH, MTTK, MTTS1 and MTTS2 gene encoding 8 Mitochondrial transfer RNAs
- MYBPC3 gene encoding myosin-binding protein C
- MYH6 gene encoding myosin heavy chain 6
- MYH7 gene encoding myosin heavy chain 7
- MYL2 gene encoding myosin, light chain 2
- MYL3 gene encoding myosin, light chain 3
- MYLK2 gene encoding myosin light chain kinase 2
- PKP2 gene encoding plakophilin-2
- PLN gene encoding phospholamban
- PRKAG2 gene encoding noncatalytic AMP-activated protein kinase gamma 2
- RYR2 gene encoding ryanodine receptor 2
- SCN5A gene encoding sodium channel, voltage-gated, type v, alpha subunit
- SGCD gene encoding delta-sarcoglycan
- TAZ gene encoding tafazzin
- TCAP gene encoding titin-cap
- TGFB3 gene encoding transforming growth factor, beta-3
- TMEM43 gene encoding transmembrane protein 43
- TMPO gene encoding thymopoietin
- TNNC1 gene encoding troponin C
- TNNI3 gene encoding troponin I
- TNNT2 gene encoding troponin T
- TPM1 gene encoding tropomyosin 1
- TTN gene encoding titin
- TTR gene encoding transthyretin
- VCL gene encoding vinculin
The price for the analysis of the 57 genes in a single sample is 2800 Euro.
Once a disease-causing mutation is identified, family members can be screened for that mutation at 250 Euro.
The turnaround time of the test is 3 months.
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