Whole Genome Sequencing – Centogene (only with medical prescription)

The CentoGenome is the ideal solution for the diagnosis of rare and neurodegenerative diseases. It serves as a first-line test to identify a molecular diagnosis in patients with suspected genetic disorders, or as a second-line test for patients with negative previous genetic test results. The CentoGenome offers a potentially cost-effective alternative to establishing a molecular diagnosis compared to performing multiple independent molecular assays.

Recent studies, statements, and recommendations from the Society for Medical Genetics on clinical WGS support it as a first- or second-line diagnostic test when a patient's symptoms or family history suggest a genetic cause of diseases.

This is especially the case when the clinical diagnosis is associated with a high level of genetic heterogeneity and when WGS results in relevant clinical improvement and is a more cost-effective approach. For example, the American College of Medical Genetics and Genomics (ACMG) recommends the use of exome/genome sequencing as first-line testing for children with intellectual disabilities, developmental delays, or multiple congenital anomalies.

We especially recommend the CentoGenome for patients in the following cases:

Symptoms are very broad, complex, or nonspecific and do not point to a specific disease or typical phenotype, such as:

• Clinical or genetic heterogeneity (eg, intellectual disability/developmental delay, epilepsy, muscular dystrophies/muscular disorders, ataxia, neuropathies, cardiomyopathies, skeletal dysplasias, immunodeficiency, deafness, blindness)
• Diseases or patients with clinical presentations or atypical phenotypes (eg, patient with intracranial aneurysm due to PKD1 gene – polycystic kidney disease)
• Patients with 'mixed' clinical presentations and clinical suspicion of dual diagnosis (eg, patient with deafness and ichthyosis, intellectual disability, and severe immunodeficiency)
• Suspected microdeletion or microduplication syndrome (eg, patients with neurodevelopmental delay, multiple dysmorphisms and/or malformations, growth retardation)
• Suspected mitochondrial disorder (eg, patient with muscle weakness, cardiomyopathy, visual problems)

Previous tests did not provide a conclusive diagnosis, such as:

• Patient with autosomal dominant spastic paraplegia, but gene panel negative
• Patient with neurodevelopmental delay and similarly affected siblings, but a negative test with microarray and WES
• Any case where a genetic disorder is suspected but WES is negative

Rapid diagnosis is a medical necessity and there is not always time for serial testing strategies, as seen with:

• Seriously ill patients for whom a diagnosis may direct or alter medical management (eg, children with seizures, hypotonia, neurologic abnormalities, and rapidly deteriorating clinical status)
• Neonates, infants, and children in whom prompt diagnosis is crucial for prognosis and treatment decisions (eg, critically ill newborns and children in neonatal and pediatric intensive care, NICU, and PICU)

Our most recent study, where we present the largest cohort of patients to have performed WGS in a clinical setting to date, demonstrated the diagnostic strength of WGS as the most comprehensive genetic test and its strengths compared to WES. The results also support that WGS should be considered the "standard of care" for genetic testing, as well as an independent first-line test for patients with rare diseases.

This test can be performed according to the approach of: 

Genetic Test Only: In this approach, genetic testing is performed only on the patient, not including their biological parents. This type of test can be useful in identifying inherited or de novo genetic mutations in the affected individual, and can provide relevant information for the diagnosis and treatment of a variety of genetic diseases and disorders. However, by not including the parents in the test, it is not possible to determine if a specific mutation is inherited or de novo, which may limit the interpretation of the results in certain cases.

Duo genetic test: In the duo approach, genetic testing is performed on both the patient and one of their biological parents, usually the one with symptoms or a family history related to the condition being investigated. This type of test can be useful to establish whether a specific genetic mutation is inherited or de novo, and to identify genetic variants associated with diseases and disorders that follow a dominant pattern of inheritance. However, by not including both parents, the interpretation of the results may be more limited compared to the trio approach.

Trio genetic test: In the trio approach, genetic testing is performed on the patient and both of their biological parents. This type of test is especially useful for identifying de novo mutations and for gaining a more complete understanding of heredity and the genetic contribution to a patient's condition. By analyzing the genome of both parents, it is possible to determine whether a mutation is inherited or de novo and also to identify genetic variants that follow patterns of recessive, dominant, or X-linked inheritance. This approach provides the most complete and accurate information for the diagnosis and treatment of genetic diseases and disorders.

If you want to download the test results files you took, you must do so within one month of receiving them. Otherwise, the laboratory will charge you an additional cost for the download service.