GENETIC TESTING
What Is Genetic Testing?
Genetic testing is a type of medical test that identifies changes in the DNA sequence, which we can pass on to our children. These changes in our DNA, called “pathogenic variants,” can manifest in disease. Genetic tests can detect such variants and confirm a disease diagnosis.
DNA is the genetic material in our cells that serves as the blueprint for our unique features. It carries the instructions that enable our body to perform various functions. Several different methods exist to quickly and reliably test our DNA; sequencing and deletion/duplication analysis are the most common. Biochemical/multiomic testing can often also aid in diagnosing disease earlier and can enable continuous therapy monitoring, especially in lysosomal storage disorders (LSD).
NGS Panels
CENTOGENE’s Next Generation Sequencing (NGS) panels test for a range of hereditary and non-hereditary conditions,providing fast and thorough results. Whether your patients have unique clinical features or are at risk of developing a genetic disease, our NGS panels can offer a cost-effective solution for diagnosis.
Whole Exome Sequencing
Turn years of searching for a diagnosis into days with CentoXome® – CENTOGENE’s Whole Exome Sequencing (WES).
Our advanced technology, expert clinical experience, and vast insights into rare and neurodegenerative diseases enable you to deliver rapid and reliable diagnosis.
Single Genes
Many genetic diseases are caused by changes or variants in a single gene. We offer a comprehensive range of tests for myriad single gene disorders.
Single Gene Testing Is Recommended for Patients With Distinctive clinical features, Family history of a specific disorder, Single gene disorders, Possible epigenetic disorder, Possible Triple repeat disorders, and Family targeted carrier testing
Chromosomal Microarray Analysis With CentoArray
Cytogenic variations are known to cause a broad range of developmental disorders, primarily neurodevelopmental and congenital anomalies.
Chromosomal microarray analysis (CMA) is recommended for analyzing cytogenic variations in patients suffering for unexplained developmental delays, intellectual disabilities, autism spectrum disorders, and/or multiple congenital malformations.
CENTOGENE’s microarray-based solution – CentoArray – enables the genome-wide detection of known novel structural aberrations, copy number variations (CNVs), chromosomal imbalances, regions exhibiting loss/absence of heterozygosity (LOH), uniparental isodisomy (UPD), and mosaicism.
Carrier Screening
CentoScreen® is our carrier testing option that helps to asses if a healthy person is a carrier of a recessive genetic disease and. CentoScreencan help partners make informed decisions and choices regarding family planning. Most people can be carriers of a disease causing change without knowing it. If both partners are carriers, they have a 25% risk of having an affected child with a recessive genetic disease and a 50% that the child will be a carrier like the parents. Getting tested early gives future parents the opportunity to make informed decisions and review the range of options available to guide pregnancy and family planning.
Prenatal Testing
Prenatal testing identifies disease-causing mutations in at-risk couples or pregnancies before birth and is offered for congenital or early-onset diseases. Early and accurate identification of disease-causing mutations in “at-risk” families before birth. All monogenic diseases can be detected, even at the early stages of pregnancy. Prenatal testing is given the highest priority at CENTOGENE.
Non-Invasive Prenatal Testing
CentoNIPT® is a non-invasive prenatal test (NIPT) that screens for the most common fetal chromosomal abnormalities – combining the latest NGS technology with expert medical reporting. CentoNIPT is performed on a single maternal blood sample and combines the latest next generation sequencing technology with the highest quality medical reporting. It provides unparalleled accuracy and detection compared to other non-invasive testing methods – ultrasonography or nuchal translucency testing.
CentoICU – For the Earliest and Fastest Diagnosis
For the earliest and fastest diagnosis of critically ill newborns and children under 24 months in intensive care units (ICU). CentoICU is designed to diagnose genetic conditions that manifest in newborns or in early childhood. Many of these conditions have overlapping phenotypes and diagnosis may have immediate implications for the treatment.
Genetic Diagnosis of Hereditary Cancer
Testing for hereditary cancers can detect specific, heritable, disease-related gene mutations that may increase the risk of certain cancers allowing an in-depth cancer risk assessment for each patient. The critical goal is to detect cancer early and to give you the opportunity to maximize health outcomes for your patients. Patient-tailored screening programs, preventive measures and proactive treatment are possible for patients of a high-risk group. Early diagnosis can mean a better overall prognosis through a choice of surgical and non-surgical treatment options.
Somatic Mutation Testing
Testing for the presence of cancer requires the utmost personal care and consideration. Somatic mutation testing is enormously beneficial for improving the prognosis and the quality of life of cancer-affected patients. Our team of hereditary and somatic cancer experts will support you during every step of the process.
Mitochondrial Disease Testing with CentoMito
Improve the lives of patients of all ages affected by mitochondrial diseases. Mitochondrial diseases are genetic conditions that occur when mitochondria fail to produce enough energy for the cell.