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.
More..