Familial Cardiomyopathy
Testet das Sequencing of 40 genes: MYH7,TNNT2, TPM1, MYBPC3, PRKAG2, TNNI3, MYL3, TTN, MYL2, ACTC1, CSRP3, TNNC1, MYH6, VCL, CAV3, SLC25A4, TCAP, MIOZ2, MYLK2, LDB3, ACTN2, PLN, JPH2, LMNA, SCN5A, ABCC9, ACTC1, MYH7, TMPO, PSEN1, PSEN2, FKTN, DSG2, NEXN, RBM20 Gen
€ 2900
 | |
| Gen | Sequencing of 40 genes: MYH7,TNNT2, TPM1, MYBPC3, PRKAG2, TNNI3, MYL3, TTN, MYL2, ACTC1, CSRP3, TNNC1, MYH6, VCL, CAV3, SLC25A4, TCAP, MIOZ2, MYLK2, LDB3, ACTN2, PLN, JPH2, LMNA, SCN5A, ABCC9, ACTC1, MYH7, TMPO, PSEN1, PSEN2, FKTN, DSG2, NEXN, RBM20 |
| OMIM | - |
| Tat | 90 days |
| Methode | SOLID next generation sequencing followed by sanger sequencing confirmation of mutations |
| Prenatal | No |
| Order# | DGSGP4 |
Some conditions, such as dilated cardiomyopathy, can be caused by a number of genes that is too large to be sequenced with Sanger sequencing or screened for mutations with other technologies on a routine clinical basis.
Currently, the development of next generation sequencing technologies has reduced the cost and turnaround time
of sequencing up to a point that it is feasible to re-sequence a large number of genes of a given patient within an affordable cost, equivalent to the sequencing of 2‐3 genes with conventional means. This approach is superior to microarrays because it is not limited to known mutations.
AND WHY USE SOLID?
SOLiDTM sequencing technology has the highest accuracy rate of the raw data (99.94%) among all next generation sequencing platforms, therefore constituting the technology of choice for biomedical research, as at only 15x coverage the accuracy is nearly perfect (99.999%). Moreover, its massive output facilitates to reach high coverage in
the targeted genes.
ARE FINDINGS CONFIRMED?
All findings with next generation sequencing are confirmed by Sanger direct double strand sequencing.
WHAT MUTATIONS ARE DETECTED?
This technology allows detecting single nucleotide variations, small deletions (up to 11 nt) and small insertions (up to
3 nt).
HOW ARE THE RESULTS PROVIDED?
Full biological and clinical interpretation is provided so the report is no different from those generated using conventional sequencing.
HOW TO SEND THE SAMPLE?
- At least 5 micrograms of high quality DNA are required (A260/280>1.8; without RNA), suspended in nuclease‐free water, at a concentration of 25 ng/ul.
- In order to avoid DNA quantity/quality loss, it is recommended to send the sample on dry ice. Please label all the tubes and seal them with parafilm. It is advised to put the tubes into a secondary container to prevent it
from directly contacting the dry ice. - Use a reliable logistics company (Fedex, DHL, World Courier, UPS, etc.)
It is advised to prevent the sample from travelling during weekends.
