EMQN proficiency testing at Centogene :: Rare Disease Day Feb 28th, 2014
Participate in CENTOGENE’s “Rare Disease Day®” Quiz
At Feb 28th, 2014, the official Rare Disease Day (RDD), patients, physicians, scientists and politicians inform internationally the broad public about rare diseases. Still too limited is the knowledge about the patients' situation, suffering from a rare disease: huge research demand, barely available drugs or treatment options, over years lasting different diagnostic approaches, not enough information and only a few experts make 'the rare' become the orphans of medicine.
More information you will find at http://www.rarediseaseday.org/
CENTOGENE supports the Rare Disease Day. As this special day approaches, you can now take part in our quiz, and as one of three potential winners make a contribution of EUR 1,000 – together with CENTOGENE – to a selected patient organization of your choice.
Join the quiz here and good luck!
News on genes & panels
NGS panel analyses
- Atypical hemolytic uremic syndrome (ADAMTS13, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR5, CFI, DGKE, THBD)
- Focal Glomerulonephrosis panel (ACTN4,TRPC6,WT1,NPHS1,NPHS2,CD2AP)
- Glycogen storage disease panel - basic (G6PC, SLC37A4, AGL, GBE1)
- Glycogen storage disease panel - advanced (GYS1, GYS2, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PGAM2, LDHA, ALDOA, ENO3, PHKB, PHKA1, PGM1, GYG1, PRKAG2, PHKG2)
- Hemolytic uremic syndrome panel (ADAMTS13, C3, CD46, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFB, CFH, CFI, DGKE, THBD)
- Infertility panel (LHB, FSHB, LHCGR, FSHR)
- Osteopetrosis panel (CA2, CLCN7, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFSF11, TNFRSF11A)
Single gene analyses
Please have a deeper look at our CentoBrief Feb 2014 to see all of our recently added single gene tests, e.g. for
- Metabolic diseases (e.g. Glycogen storage diseases, CPT deficiency, Tyrosinemia type Ib)
- Neurological diseases (e.g. Facial paresis, Autism spectrum disorder, Joubert syndrome type 13)
- Ear, nose and throat diseases (e.g. Deafness autosomal recessive type 91)
- Bone, skin and immune diseases (e.g. Vohwinkel syndrome with ichthyosis, Opsismodysplasia)
- Liver, kidney and endocrinological diseases (e.g. Hypogonadotropic hypogonadism)
- Reproductive genetics (e.g. Ovarian dysgenesis type 1, Follicle-stimulating hormone deficiency)
- Tumoral and haematological diseases (e.g. Leukemia, acute myeloid, Lymphocytic leukemia, familial Erythrocytosis type 3)
- Malformation and retardation syndromes (e.g. Weaver syndrome, Van der Woude-syndrome, Meier-Gorlin syndrome type 1)
Centogene is committed to providing the highest level of quality. A part of that commitment is participating in multiple Proficiency Testing Schemes that test our scientists and technical personnel competency and provide the needed information to continuously monitor the laboratory performance.
One program is provided by the European Molecular Genetics Quality Network (EMQN), is offered once per year. Centogene participates at 100% of available testing/schemes. EMQN is a non-profit organization that was started to aid genetic laboratories in establishing and maintaining high quality standards and tools to reach those goals.
Get more details on our profiency testing in January 2014
Gain more insight into genetic testing and its medical benefit :: Radio interview by
Prof Arndt Rolfs, MD, Chief Medical Director
Prof Arndt Rolfs, MD, Chief Medical Director of Centogene, discussed with Suzanne Radford at her radio broadcast "Eye on Health", Radio Dubai Today :: dubaieye1038, about the basic aspects of genetic testing, its huge medical benefit physicians and patients will receive as well as treatment options for rare diseases and newborn screening. The best period of life for testing, focussed on the most frequent diseases, is the newborn period - an early diagnosis ensures that the right decision is being taken for treatment :: the earlier the treatment starts, the better the prognosis is for the newborn's life.
The same applies to more common diseases like breast cancer - consider the family history of your patient and in case of any uncertainty, conduct genetic testing to help your patient with the right treatment option.
Gain more insight and listen to the radio stream here.
If you have any questions or comments, please do not hesitate to contact us.
Senior Director Strategic Communication