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Next Generation Sequencing Platforms  

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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