Comprehensive and up-to-date: Our gene panel spectrum

 

Over 2000 genes are covered by our panels. These are compiled in dialogue with clinical partners and on the basis of reviews, many years of experience and the latest literature. Our diagnostic services are constantly updated and adapted. This means that all medical disciplines will find the right solution with us. For difficult-to-sequence regions (sequence homologies for PKD1 or highly repetitive regions such as RPGR-ORF15), we have developed special NGS-based procedures that offer high sample throughputs at high sensitivity (e.g. > 99.7 percent for varants in the PKD1 gene).

We offer sequence analysis, Targeted Del/Dup (CNV) analysis and can also analyze single genes for you.

For panel diagnostics, you will usually receive the results within four to six weeks.
For single gene diagnostics, you will usually receive the result within two to four weeks.
For familial mutations and urgent analyses, you will receive the result within one to two weeks.
Please inform us in advance if you have an urgent case.

 

Tech. Data:
- Hybridization-based enrichment of target regions using Roche/NimbleGen technology (adapted SeqCap® EZ Choice Libraries)
- Clarification rates through NGS analysis of gene panels: As we were one of the first diagnostic laboratories to introduce NGS analysis, we have many years of experience in the analysis of large diagnostic gene panels.
- Several thousand panel sequences in database
- 10,000 NGS analyses per year - High sensitivities of >99.8%.