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Next Generation Sequencing Platforms  

Nov 1, 2009: GENDIA now offers a next-generation sequencing  platform for the molecular diagnosis of Familial Arrythmia.
This platform is directly sequencing single DNA molecules with the Helicos' True Single Molecule Sequencing (tSMS)™ technology.
The platform detects mutations in:

> 75% of Long QT syndrome – Brugada syndrome
> 50% Arrhythmogenic Right Ventricular Dysplasia (ARVD) / Cardiomyopathy
> 50% of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
> 7% Atrial Fibrillation

with sequencing of the following 24 genes:

  • ANK2 encoding Ankyrin-B
  • CACNA1C encoding Calcium channel, L type, alpha 1
  • CACNB2 encoding Calcium channel, voltage-dependent, beta 2
  • CASQ2 encoding Calsequestrin
  • CAV3 encoding Caveolin 3
  • DSC2 encoding Desmocollin-2
  • DSG2 encoding Desmoglein-2
  • DSP encoding Desmoplain
  • GPD1L encoding Glycerol-3-phosphate dehydrogenase 1-like
  • JUP encoding Junction plakoglobin
  • KCNE1 encoding Voltage-gated potassium channel, Isk related, member 1
  • KCNE2 encoding Voltage-gated potassium channel, Isk related, member 2
  • KCNH2 encoding Potassium channel, voltage-gated, H2
  • KCNJ2 encoding Inwardly rectifying potassium channel
  • KCNQ1 encoding KQT-like voltage-gated potassium channel 1
  • NPPA encoding Natriuretic peptide precursor a
  • PKP2 encoding Plakophilin-2
  • PLN encoding Phospholamban
  • RYR2 encoding Ryanodine receptor 2
  • SCN1B encoding Sodium channel, voltage-gated, type 1B
  • SCN4B encoding Sodium channel, voltage-gated, type 4B
  • SCN5A encoding Sodium channel, voltage-gated, type 5A
  • TGFB3 encoding Transforming growth factor, beta 3
  • TMEM43 encoding Transmembrane protein 43
The price for the analysis of the 24 genes in a single sample is 2000 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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