top-banner

METHODS AND TECHNOLOGIES

Single-cell analysis

SINGLE CELL ANALYSIS

As part of preimplantation genetic diagnosis (PGD), embryonic cells that later form the placenta (so-called trophectoderm cells) are directly examined, and both maternal and paternal genetic material is assessed. Prior to this, genetic counseling must be conducted to determine whether PGD is feasible for the specific condition or disorder in question. The performance of PGD, which is regulated in Germany by an amendment to the Embryo Protection Act, is only permitted in licensed PGD centers following approval by an ethics committee (positive decision). Our PGD center is authorized to conduct PGD.

Preimplantation Genetic Testing for Monogenic Disorders (PGT-M)

By examining a few trophectoderm cells from an embryo, severe single-gene disorders can be diagnosed as part of in vitro fertilization (ICSI). To do this, a specific testing system must be established. This individualized PGD testing system includes:

  1. Direct detection of the disease-causing variant (mutation) known in one or both parents, using PCR including fragment length analysis (for deletions) or single nucleotide sequencing (for single nucleotide variants).
  2. Analysis of SNP markers (indirect detection). These polymorphic genetic markers located near the known variant are genotyped using SNP-array (karyomapping technology).

The combination of these two detection techniques leverages the phenomenon of genetic linkage between two closely adjacent genetic loci, significantly increasing the diagnostic reliability of PGD.

Preimplantation Genetic Testing for Aneuploidy (PGT-A)

One of the main causes of low pregnancy rates and miscarriages in assisted reproduction is numerical chromosomal abnormalities, such as the loss or gain of chromosomes. These abnormalities can occur in the egg or sperm or arise shortly after fertilization, impairing the embryo’s further development.

Preimplantation Genetic Testing for Structural Chromosomal Aberrations (PGT-SR)

In some cases, infertility or recurrent miscarriages may be caused by structural chromosomal abnormalities, such as reciprocal or Robertsonian translocations, inversions, deletions, or duplications. If one parent is a carrier of a balanced translocation, it can be passed on in an unbalanced form to offspring.

Chromosomal aberrations in trophectoderm cells or polar bodies are analyzed following whole genome amplification (WGA) using next-generation sequencing (NGS).

WAYS TO PARTNER WITH US

TarCET IVD Kits

CE-IVD kits containing reagents
for hereditary indications in
an easy-to-use kit form

Learn more

Technology Transfer

Out-of-the-box genetics workflow
from sequencing to reporting
for non-invasive prenatal testing

Learn more

Genetic Testing Laboratory

Your partner for
all genetic tests

Learn more

Contact Us

Please get in touch with us
for any questions, inquiries,
feedback, or with any
comments you might have.

Learn more

BLOG ARTICLES

February, designated as Cancer Awareness Month, marks a time to reflect on the remarkable progress made in cancer research and to inspire hope for th…

Read more

Introduction Cardiovascular disease (CVD) is a major health issue as it remains a leading cause of death worldwide [1]. CVD is responsible for mor…

Read more

Antimicrobial resistance (AMR) is one of the most pressing global health threats, and accurate identification and surveillance of multidrug-resistant…

Read more

Colorectal cancer remains a significant health concern globally. While genetic factors play a crucial role in its development, identifying the exact …

Read more

A new meta-analysis links trans-kingdom gut microbiota (bacteria, eukaryotes, viruses, archaea) to immune checkpoint inhibitor (ICI) response in canc…

Read more

Reproductive health is a fundamental aspect of human well-being, affecting individuals and communities worldwide [1]. It encompasses a wide range of …

Read more

It seems as though everyone is talking about artificial intelligence, usually referred to as AI, these days! Indeed, not only are AI tools now access…

Read more

Orphan drugs are those developed specifically for the treatment of rare diseases. Within the pharmaceutical industry, the drug development process is…

Read more

A study of 629 pregnancies with ultrasound-detected anomalies found that exome sequencing identified pathogenic variants in 14% of cases. The detecti…

Read more

Breast cancer is a type of cancer that originates in the breast cells. Genetic changes in the DNA of the healthy breast cells can lead to the formati…

Read more

OUR NETWORK