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.

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).

Update of the Panel for Neuromuscular Diseases

A significant increase in sensitivity leads to almost perfect coverage of all genes. Also new scientific findings have been incorporated. The Panel for Neuromuscular Diseases is now available in version seven.

The sensitivity of the new version has been increased from > 98.4 % to > 99.997 % in non-homologous regions. This results in almost perfect coverage of the panel. Furthermore, the panel’s gene sets have been revised and updated according to the latest scientific research (oder findings). In particular the gene set for congenital myasthenic syndromes and arthrogryposis (formerly NMD06) has been divided into two dedicated gene sets:

  • Congenital myasthenic syndromes (29 genes, NMD13) (AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LRP4, MUSK, MYO9A, PLEC, PREPL, RAPSN, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, VAMP1) 
  • Arthrogryposis (33 genes, NMD14) (ACTA1, ADCY6, ADGRG6, ALG3, BICD2, CHST14, CNTNAP1, DNM2, ECEL1, ERBB3, ERGIC1, FBN2, FKBP10, GLDN, GLE1, LGI4, MYBPC1, MYH3, MYH8, NALCN, NEK9, PIEZO2, PIP5K1C, PLOD2, SYNE1, TNNI2, TNNT3, TOR1A, TPM2, UNC50, VIPAS39, VPS33B, ZC4H2)

Our large panel approach is cost and time efficient: We always sequence all 344 genes of the neuromuscular disease panel and analyze the ordered gene set. As a result, we can quickly expand the analysis to all other gene sets. Furthermore we offer to check all 344 genes of the neuromuscular disease 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 any questions please contact our team at sales@cegat.de. The new panel can be ordered here.

Update: Panel for Cardiac Diseases

We have updated our Panel for Cardiac Diseases. It has been expanded by 46 genes to cover 202 genes in total, grouped into 15 gene sets. This significantly increases the likelihood of finding the causal variant for genetic cardiac diseases.

Our Diagnostic Panel helps to detect cardiac diseases at an early stage so that targeted, preventive measures can be taken. Based on recent scientific findings we have updated all gene sets of the panel. Particularly noteworthy in this context is the gene set for isolated and syndromal congenital heart defects (HRT09), which has been expanded by 39 genes.

The Panel for Cardiac Diseases was enlarged by the following gene sets and phenotypes:

  • Cardiomyopathy with onset in neonatal period, infancy or childhood (HRT13)
  • Neuromuscular diseases with cardiomyopathy (HRT14)
  • Pulmonary arterial hypertension (HRT15)
  • Hypercholesterolemia and Hyperlipoproteinemia (HRT16)

Please also note our cost and time efficient large panel approach. We always sequence all genes of a panel and analyze the ordered gene set. As a result, we can quickly expand the analysis to any desired gene set for only little additional costs. Furthermore, all diagnostic panels include a panel-wide deletion/duplication screening using the copy number variation (CNV) track. We validate our analysis by means of MLPA or qPCR in case of irregularities. The del/dup analysis contributes to CeGaT’s high quality medical reports to provide you with all major analysis options available.

For further assistance please contact our team at sales@cegat.de. The new panel can be ordered here.