Praxis für Humangenetik Tübingen, Airport Medical Center und CeGaT führen Corona-Akutdiagnostik am Flughafen Stuttgart durch

Seit heute sind die Praxis für Humangenetik Tübingen, Dr. Dr. Saskia Biskup, in enger Zusammenarbeit mit dem Airport Medical Center MVZ, Dr. Jens Künzel, und der CeGaT GmbH im Corona-Testzentrum am Stuttgarter Flughafen tätig.

Das Testzentrum bietet seit Anfang August Tests zum Direktnachweis des neuartigen Coronavirus an. Passagiere erfahren durch den Test schnell und zuverlässig, ob sie mit SARS-CoV-2 infiziert sind. Wir unterstützen damit gemeinsam die Bemühungen, die Verbreitung von COVID-19 einzudämmen und erfüllen den entsprechenden Versorgungsauftrag.


Für den Test werden Abstriche aus dem Nasen-Rachen-Raum mittels Real-Time-Polymerasekettenreaktion (RT-PCR) auf virale RNA hin untersucht. Die in der Teststation am Flughafen Stuttgart entnommenen Proben werden in dem Tübinger Labor der CeGaT untersucht. Die Testergebnisse liegen am nächsten Tag vor und werden per Post versandt.
Für Rückkehrende aus Risikogebieten ist der Test seit Anfang August verpflichtend. Die Teststation befindet sich in Terminal 1 und ist täglich von 6:00 Uhr bis 23:00 Uhr geöffnet.


Wir danken dem Airport Medical Center MVZ, dem Stuttgarter Flughafen, der Kassenärztlichen Vereinigung Baden-Württemberg und dem Sozialministerium für die reibungslose Zusammenarbeit, ohne die die schnelle Integration in die Corona-Teststation am Flughafen Stuttgart nicht möglich gewesen wäre.

Saving a Little Girl‘s Life

An exact diagnosis is the basis for an optimal treatment. Here is a case from our daily work where exome diagnostics saved a little girl’s life. 

Our patient had shown signs of severe illness at an early age. Her parents sought medical assistance when she was about six months old. Examining the baby, the physicians identified a bone marrow developmental defect. But the reasons for the deficiency remained unclear. However, the physicians knew that time was precious, since the little girl‘s older brother already died at the age of seven months, displaying similar symptoms. Facing this, the only option the physicians had was to prepare for bone marrow transplantation. The surgery posed a high risk for the girl‘s life because survival rates for this type of procedure for a baby are far from good, at around 50%. But the physicians also knew that if two siblings show such similar symptoms, there had to be a genetic cause.

Finding the needle in the haystack

To get results as fast as possible and to retain a chance to spare the girl the risky bone marrow transplantation, the treating physician approached CeGaT directly. CeGaT’s task was to analyze the DNA of the girl and both parents. At CeGaT, the DNA from the little girl and both parents was analyzed (so-called “trio exome diagnostics”).

Every human has thousands of genetic alterations and nearly all of them do not cause diseases. Finding the one genetic variant that causes a patient‘s disease is the wellknown “needle in a haystack problem”. This procedure requires a profound understanding of sequencing technology, molecular biology, and human genetics.

Gene analysis reveals a hidden condition

CeGaT was able to identify two variants in our patient, one inherited from each parent, in a gene called TCN2. The protein defined by this gene helps Vitamin B12 enter body cells, such as bone marrow cells. This is essential for bone marrow development. As the girl‘s blood values for vitamin B12 were normal, the physicians had no indication of this condition. In order to compensate for the reduced transfer of vitamin B12 into the bone marrow, the physicians decided to provide her with B12 supplements through medication and postponed the bone marrow transplantation. The treatment worked – the little girl recovered, bone marrow transplantation was not needed. She is developing well:
Today, she is a healthy, happy four-year-old girl.

For the many diseases that are inherited, genetic diagnostics give precise insights into their causes and pathomechanisms. Without genetic testing, the diagnosis very often remains vague and cannot be confirmed. Understanding a disease is the first step in choosing the best therapeutic option and thereby helping patients to get healthy or increase their quality of life drastically. Genetic diagnostics is a cost-efficient diagnostic tool that should be integrated early into the diagnostic plan of many patients – because an exact diagnosis is the basis for optimal treatment.


Case Overview

Patient:
6 months old girl

Symptoms:
Congenital bone marrow failure, recurrent infections, anemia, dystrophy, reduced neutrophil and thrombocyte count

Familial history:
Brother with same symptoms passed away at the age of seven months

Inital planned therapy strategy:
Bone marow transplantation. Chance of survival only approx. 50%

Genetic testing:
Trio exome diagnostics at CeGaT

Results:
Homozygous mutation in TCN2 (encodes for vitamin B12 carrier) leading to a defect in vitamin B12 metabolism (despite normal blood values)

Consequences:
No need for bone marrow transplantation. High-dose therapy with vitamin B12. Child can live a normal life

Visit the CeGaT Exome Xtra website

CeGaT Brings New Dimension to Exome Diagnostics

CeGaT aims to solve all genetically-caused cases of disease to help physicians state a diagnosis. To pursue this goal, CeGaT incorporated its long-term expertise and latest scientific knowledge in an innovative diagnostic tool: CeGaT Exome Xtra is the most powerful genetic diagnostic option for patients with complex, unspecific, and rare diseases.

CeGaT has been utilizing the power of genetic diagnostics for more than a decade as it introduced gene panels to clinical genetic diagnostics in 2010. Since then, the company has been continuously updating the panels using the newest literature and in close collaboration with clinical experts. Based on all the knowledge gained, CeGaT Exome Xtra is the latest innovation in genetic diagnostics, particularly suitable for solving the most complex patient cases.

With CeGaT Exome Xtra, patients and their treating physicians benefit from a unique approach that combines the advantages of whole-exome sequencing (WES) and whole-genome sequencing (WGS), while avoiding their disadvantages. It outperforms commercially available WES and WGS and increases diagnostic yield.

CeGaT Exome Xtra – Better than exome, smarter than genome

CeGaT Exome Xtra binds all accomplishments of genetics in one single test.

  • Extra smart clinical design

CeGaT Exome Xtra considers all medically-relevant regions throughout the complete genome, while standard WES only comprises the coding regions. All known pathogenic and likely pathogenic intronic variants are included, as well as disease-associated individual transcripts and cryptic exons. Regular updates ensure that it always corresponds to the latest science and thus provides the ideal basis for genetic diagnostics.

  • Extra thorough analysis

CeGaT’s data analysis goes beyond regular exome diagnostics as it accounts for variants in genes with reduced penetrance, variable expressivity, and imprinting effects. It furthermore assesses copy number variants (CNVs), also including combinations of sequence variants (SNVs, InDels) with CNVs. All family constellations (duo, trio, etc.) can be analyzed.

  • Extra insightful results

A total of four scientific experts and medical doctors contributes to every medical report – generating the best possible results with maximum medical usability.

CeGaT Exome Xtra outperforms WGS in a diagnostic setting.

Although WGS is sometimes described as the most comprehensive genetic analysis possible, its coverage is often too low for reliable variant detection, and mosaicism cannot be detected. CeGaT Exome Xtra covers more relevant regions at higher coverage and thereby delivers higher sensitivity – at much lower costs than WGS. At the same time, thousands of irrelevant variants usually obtained by WGS analyses are avoided, improving diagnostic speed and accuracy. A detailed comparison can be found in our Tech Note „The Best Possible Exome“.

Whole-genome sequencing is a great tool for research. Until it is ready for diagnostic use, CeGaT Exome Xtra provides the clinical genome diagnostics to help patients today.

All exome analyses include the regular re-evaluation variants of uncertain clinical significance (VUS) for two years to further incresase the diagnostic yield. This service is free of charge.

Further information on CeGaT Exome Xtra can be found here. For any question, please contact us at sales@cegat.com.

CeGaT Introduces Regular Re-evaluation of Variants of Uncertain Significance (VUS)

CeGaT’s VUS re-evaluation reassesses previously reported variants of uncertain clinical significance (VUS) as soon as new scientific evidence on the pathogenicity of the variant is available. This leads to an even higher number of diagnoses made by CeGaT.

Variants of uncertain clinical significance (VUS) are one of the five classes defined by the American College of Medical Genetics and Genomics (ACMG) for the interpretation of genetic variants. A variant is classified as VUS if, at the time of examination, it cannot be determined whether it is pathogenic or benign.

Genetic research is making great progress and is constantly improving our knowledge of disease-causing variants. This makes it likely that, over time, a VUS will be better understood and classified as pathogenic (“probably pathogenic” / “pathogenic”) or benign (“probably benign” / “benign”).

In the event of such a VUS re-evaluation, CeGaT proactively informs the treating physicians. In addition, the re-evaluated variant is interpreted by our specialists with reference to the clinical picture of the patient and a revised medical report is issued.

The re-evaluation is very relevant for the care and treatment of patients and family members. CeGaT’s VUS reclassification is available from now on. The service is free of charge and is offered for 5 years from the date of the initial medical report. Further information on the service can be found here. If you have any questions, please do not hesitate to contact our team at sales@cegat.de.

Newest Agilent Enrichment for Exome Diagnostics

CeGaT’s mission is to apply the best technologies available for genetic testing. In this spirit, we have now moved our exome diagnostics pipeline to the newest and most comprehensive human exome enrichment kit provided by Agilent (SureSelect Human All Exon V7).

Trio (father, mother, affected child) Exome Diagnostics is recommended if:

  • the patient’s phenotype is complex and has an early onset
  • prior genetic testing, specifically array CGH, turned out negative
  • a specific genetic test is not available
  • there are multiple or overlapping differential diagnoses

Our Trio Exome Diagnostics pipeline includes a complete and detailed interpretation of genetic alterations with respect to the clinical phenotype. We evaluate and interpret single nucleotide variants (SNVs), small insertions and deletions (INDELs) and copy number variants (CNVs) of single and/or multiple exons. We analyze mitochondrial DNA, loss of heterozygosity and on top of that our pipeline is even able to account for mosaicisms.

Taken together our medical reports are generated and written by a highly educated team of specialists with long standing expertise in human genetics. The latest literature, public and in-house databases are used for the interpretation. Variant classification follows ACMG (American College of Medical Genetics) guidelines. All medical reports are discussed interdisciplinary within our team. Frequently we publish new findings in high ranking journals together with our collaborators worldwide (publications).

For further information please visit here or contact sales@cegat.de.