New Service: CeGaT’s Diagnostic Panel “Fertility” Identifies Genetic Causes for Infertility

CeGaT’s genetic infertility testing aims to identify the cause of involuntary childlessness: An appropriate diagnosis provides clarity for those affected. Based on the findings, the attending physicians can further improve the chances of having a child.

People that have been trying in vain to start a family for a long time experience enormous psychological pressure, emotional suffering, and financial burden. It is, therefore, crucial for their quality of life to identify the cause as soon as possible.

According to estimates, up to 10 percent of involuntary childlessness stems from genetic causes, such as hereditary hormonal disturbances. CeGaT now offers one of the most comprehensive genetic diagnostic panels for female and male infertility. It comprises all relevant genes known according to the current state of science. The 141 genes in men and women are divided into 11 gene sets covering the most frequent conditions that cause genetic infertility or recurrent pregnancy loss:

  • Primary ovarian insufficiency (FER01)
  • Premature ovarian failure (FER02)
  • Ovarian dysgenesis (FER03)
  • Recurrent pregnancy loss, early embryonic arrest, and thrombophilia (FER04)
  • Thyroid dyshormogenesis and congenital hypothyroidism (FER05)
  • Azoospermia (FER06)
  • Oligozoospermia (FER07)
  • Oligoastheno-teratozoospermia (FER08)
  • Irregularly sperm and flagella morphology (FER09)
  • Hypogonadotropic hypogonadism with or without anosmia (FER10)
  • Pituitary hormone deficiency (FER11)

Once treating physicians know the genetic cause, they can determine the optimal procedure to hopefully realize their patients’ desire for a child, such as tailored hormonal therapies or assisted reproductive technologies. Futile attempts can be avoided.

CeGaT’s diagnostic panel “Fertility” is also relevant for families in which genetic infertility has been diagnosed. Relatives who wish to have children can have their genetic predisposition tested before they try to start a family. Further information on the service can be found here.

All diagnostic panels include a panel-wide deletion/duplication screening using the copy number variation (CNV) track. We validate our analysis using MLPA or qPCR. The del/dup analysis contributes to CeGaT’s high-quality medical reports and provides you with all major analysis options available.

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.

Update of the Molecular Pathology Panel for Cancer Diagnostics

CeGaT GmbH has expanded its molecular pathology panel and is now able to detect additional therapy-relevant gene mutations in tumors. The diagnostic panel allows a rapid and cost-efficient examination of the most common tumor entities.

The Molecular Pathology Panel has been significantly revised, following the latest scientific findings and our own insights from cancer diagnostics. 17 additional genes and newly created gene sets expand the panel’s range of applications. It is used for the focused analysis of therapy-relevant genes and their alterations in the most common cancers. These genes are highly relevant for a comprehensive understanding and a clear description of the clinical picture. This knowledge serves as the basis for recommending the appropriate treatment as there are specific therapy options for the selected genes and tumor entities.

After the panel update, CeGaT covers three additional tumor diseases with new gene sets. These are

  • Medullary thyroid carcinomas (PAT07)
  • Myelodysplastic syndromes (PAT08)
  • Cholangiocellular carcinomas (PAT09)

The gene set for breast, ovarian, and pancreatic carcinoma (PAT06) has been split up for more precise diagnostics: Pancreatic carcinomas are now examined through a separate gene set (PAT10).

Due to the high therapeutic relevance of PARP inhibitors in BRCA-mutated breast and ovarian cancers, CeGaT now also offers a separate BRCA1/2 test (PAT11). The BRCA1/2 test can also be requested by physicians as part of predictive genetic diagnostics.

As a further change, the gene sets for melanomas (PAT01), colon carcinomas and gastric carcinomas (PAT02), and lung carcinomas (PAT03) have been supplemented with additional genes. The new version of the panel also allows the analysis of the genes NTRK1, FGFR1, FGFR2, FGFR3, BRAF, ALK, RET and ROS1 to detect therapy-relevant translocations. Due to their high therapeutic value, they are always included routinely for the gene sets PAT01 to PAT10.

For further information regarding the panels, please do not hesitate to contact us at sales@cegat.de. The new panel can be requested here.

Panel Update: Improvement of the Panels for Epilepsy, Metabolic Diseases & Brain Development Disorders and Mitochondriopathies

The diagnostic panels for the disease categories Epilepsy, Metabolic Diseases & Brain Development Disorders (EPI) and Mitochondriopathies (MIT) have been updated in accordance with the latest scientific findings.

As part of the update, the gene sets for metabolic diseases (MET) have been integrated into the Panel for Mitochondriopathies (MIT). This new, fourth version of the Panel for Metabolic Diseases including Mitochondriopathies now comprises 539 genes, divided into 14 gene sets for metabolic diseases and 9 for mitochondriopathies. The reorganization treats mitochondriopathies as part of metabolic diseases. A grouping of disease patterns was thereby created that offers the treating physician new differential diagnosis options.

Since the majority of the MET gene sets have been moved, the EPI panel has been renamed to Panel for Epilepsy & Brain Development Disorders. It now contains 7 gene sets for epilepsy and 11 for brain development disorders. Still part of the panel are the phenotypes for metabolic diseases that offer differential diagnosis options: congenital glycosylation disorders (MET01), lysosomal diseases (MET02), and peroxisomal biogenesis defects (MET03). In total, the panel now comprises 699 genes in 21 gene sets.

The following changes have been made to individual gene sets of the two panels:

  • The gene set for epilepsy & developmental delay (incl. epileptic encephalopathies) (EPI02) has been extended by 18 genes.
  • GPI anchor deficiencies / hyperphosphatasia (EPI12) has been supplemented by 5 genes.
  • The number of analyzed genes for macrocephaly (BRN04) has been increased by 10.
  • The gene set for Joubert’s syndrome (BRN07) can now be ordered as an integral part of the EPI panel.
  • The gene set for Leukodystrophies and differential diagnoses (BRN10) now contains 51 additional genes.
  • A new gene set is available for the diagnosis of the Kabuki syndrome (BRN11).

Please also note our cost and time efficient large panel approach. We always sequence all 699 (EPI) respectively 539 (MIT) genes of the panel and analyze the ordered gene set. As a result, we can quickly expand the analysis to other gene sets. Furthermore, we offer to check all genes of the panel for ACMG class 4 and 5 variants. All our diagnostic panels include a panel-wide deletion/duplication analysis – free of charge. We validate pathogenic deletions or duplications by means of MLPA or qPCR before we report them. The highest quality possible is our standard for diagnostics.

For further information on the panels, please contact us at sales@cegat.de for advice. The new panels can be requested here (EPI) and here (MIT).

CeGaT’s Genetic Tumor Diagnostics: Significantly Enhanced Medical Reporting

CeGaT has updated its Somatic Tumor Panel: Sequencing of 742 genes in tumor and normal tissue, reporting of treatment option, TMB and MSI determination, illustration of tumor-relevant signaling pathways. This helps physicians to identify the best therapeutic strategy.

Every tumor has an underlying genetic cause: a unique set of mutations that help the tumor to survive, reducing its sensitivity to treatment and developing resistance against drugs. Knowing a tumor’s mutations helps to identify promising therapeutic strategies and to avoid ineffective treatment options with their associated side effects. The goal of our Somatic Tumor Panel is to analyze all genes known to be involved in the development and progression of a tumor and to make this information accessible by means of a comprehensive and actionable medical report.

Our medical report on somatic tumor mutations features a wide range of analyses that offer physicians a detailed understanding of the molecular changes within the tumor cells. All our analyses are designed to assist the treating oncologist to choose an individualized treatment for each patient:

  • Treatment options

Our comprehensive medical report describes which of the tumor’s somatic mutations have potential therapeutic relevance. We list all treatment options.

  • TMB/MSI determination

Reliable determination of tumor mutational burden (TMB) and microsatellite instability (MSI) is a basis for a decision on immunotherapies with checkpoint inhibitors.

  • Illustration of tumor-relevant signaling pathways

Understanding altered signaling in the tumor helps to find its vulnerabilities and allows to identify the tumor’s possible bypass strategies.

We continuously update our panel according to recent scientific publications. For this update 32 genes have been added. We now analyze 742 tumor associated genes and selected translocations in 31 genes.

To ensure the highest sensitivity, specificity, and accuracy, we base our analysis on tumor and matching normal tissue. Only this approach guarantees accurate results. To maximize diagnostic yield, we include the analysis of single nucleotide variants (SNVs), insertions and deletions (INDELs), and copy number variants (CNVs).

We also offer a liquid biopsy option: Liquid biopsy is a useful method to access tumor tissue if it is not possible to obtain tumor tissue through surgery.

Sequencing, bioinformatic analysis and scientific interpretation are all done in-house by our specialized team. Our laboratory is fully accredited according to CAP, CLIA and DIN EN ISO 15189:2014.

For any questions please contact our team at sales@cegat.de. The somatic tumor analysis can be ordered here.