New publication :: Extended test portfolio :: Infertility testing: the right diagnosis, the right decision
A more efficient genetic screening strategy of the CFTR Gene
Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more efficient genetic screening strategy based on next-generation sequencing of the CFTR gene. The following manuscript describes the validation of the Ion AmpliSeq CFTR panel in combination with the Ion Torrent PGM sequencer (Life Technologies) for the genetic screening of CFTR. We validated this approach in a cohort of 177 patients with previously known CFTR mutations and polymorphisms. In addition, we describe the observed allelic frequencies of 94 unique definitely and likely pathogenic, uncertain, and neutral CFTR variants, some of them not previously annotated in the public databases.
News on genes & panels
Updated test portfolio
Centogene has recently added new single gene tests and NGS panels to its portfolio, constantly following the most actual scientific developments. Our NGS panel composition always reflects the clinical relevance to the specific disease phenotype, processed with a standardized quality scheme and internal controls.
Please have a deeper look at our CentoBrief May 2015 for new single gene analyses and
new NGS panels.
To see all of our recently added single gene tests or NGS panels, please download pdf here.
Infertility testing: the right diagnosis, the right decision
Roughly 10% of infertility cases have a genetic etiology. Some patients have a combination of symptoms that does not allow for the hypotheses to be narrowed down to one particular underlying genetic cause. Performing numerous physical tests is costly and time consuming. Most importantly, delayed diagnosis and treatment have a dramatic impact on a patient’s quality of life.
To resolve this challenge, Centogene offers three different infertility genetic panels based on comprehensive scientific literature research and our own medical expertise, taking into account the common genetic causes of isolated infertility.
What´s the advantage of our infertility testing:
- Short turnaround time (< 35 days)
- Highest level of quality
- Attractive prices
- CAP and CLIA and ISO certification and accreditation
- World-class clinical reports
Knowing the exact cause of infertility allows for better diagnostic decisions, and enables enhanced counselling for parents in regard to risks for children. For this reason, genetic testing has the potential to help a significant number of couples in their wish to have children.
If you are interested in further information on our infertility testing, please visit our homepage or contact us at any time (+49 381 203 652 222; crd(at)centogene(dot)com).
If you have any questions or comments, please do not hesitate to contact us.
Senior Director Strategic Communication