Empowered by global genetic expertise

Our goal is the rapid medical diagnosis of inherited diseases, provided at the earliest possible moment as we turn analytical information into actionable results for physicians, patients and pharmaceutical partners.

Our commitment to the global medical community is an early and precise diagnosis for continuous improvement of therapeutic options for each individual patient.

Our Latest Scientific News

  • GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and eventually translated into patient care. In addition to previously known features of intellectual disability, epilepsy and autism, we found evidence that GRIN2B encephalopathy is also frequently associated with movement disorder, cortical visual impairment and MCD revealing novel phenotypic consequences of channelopathies.

  • Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype

    Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, encoding for the enzyme α-galactosidase A. Although hundreds of mutations in the GLA gene have been described, many of them are variants of unknown significance. Here we report a novel GLA mutation, p.Ile239Met, identified in a large Hungarian three-generation family with FD. We conclude that the p.Ile239Met GLA mutation is a pathogenic mutation for FD associated with predominant cardiac phenotype.

  • Evidence for inflammation in Fabry’s disease? Headache and muscle involvement responding to corticosteroid and methotrexate treatment

    We report the case of a 38-year-old female patient who had been diagnosed as lupus erythematosus because of generalized muscle and burning pain combined with slightly elevated C-reactive protein (CRP) and antinuclear antibodies (ANA) 1:640. Twelve years later, Fabry’s disease was diagnosed by molecular genetics. Lupus erythematosus and any other co-morbid rheumatologic diseases were falsified retrospectively and prospectively according to international classification criteria. This case illustrates, that in addition to the deposition of lyso-gb3 secondary inflammatory mechanisms may play an important role in the pathophysiology of symptoms in Fabry’s disease.

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Testimonials

Dear Prof. Rolfs, ...

I want to thank you again for your support in our activity in rare disease field in Romania. It was a great meeting at Rare Disease Day symposium in Bucharest on 23th February. Centogene team participation contributed immensely to our event. It's amazing how much value you offered to our specialists looking to learn about rare diseases and new genomic technologies. Read more...

Romania, March 2017

Dear colleagues, ...

... the world's best laboratory Centogene!

Ukraine, December 2016

Congratulation ...

... for this success. The secret key of such achievement is the continuous unlimited help, collaboration, dedication and hard work from Centogene team. Special thanks to Daniel and Rami. Looking forward for more publications togother in the near future.

Riyadh, November 2016

I am an experienced neurogeneticist ...

and moved back to Lebanon from the US wanting to make a difference in the diagnosis, care and prevention of recurring neurogenetic disorders in the Lebanese. Alas, I was only partially successful, ... Read more

Lebanon, January 2016

Thank you ...

... very much for your unlimited help and support.

Saudi-Arabia, December 2015

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CENTOGENE is proud to announce today our Euro 25 million financing round led by TVM Capital Life Science in cooperation with DPE Deutsche Private Equity,...

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CENTOGENE AG (CENTOGENE) has been working together for years with local, national, and international partners in developing biomarkers to be used in the early...

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Another milestone is reached for our new headquarter in Rostock: Yesterday, we celebrated together with colleagues, friends and partners the Roofing Ceremony....

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CENTOGENE has recently added numerous single gene tests and next generation sequencing (NGS) panels to its portfolio. Our NGS panel compositions always reflect...

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The ‘Rare Disease Day’ is celebrated every February, to help raise awareness and build community for all those affected by rare genetic diseases.

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Our new headquarter in Rostock, CentoNew, is growing rapidly – we started the countdown to our move-in November 2017.

The new headquarter in Rostock will...

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Melbourne, Australia and Rostock/Berlin, Germany: CENTOGENE AG (CENTOGENE) and Genetic Associates announce their strategic collaboration for the Australian/New...

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The Accreditation Committee of the College of American Pathologists has renewed accreditation to CENTOGENE AG based on results of a recent on-site inspection as...

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CENTOGENE participated in this year’s ‘Wissenskarawane’, an educational event aiming to bring insight knowledge about the newest findings in research and...

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