Whole Exome Sequencing – Centogene (only with medical prescription)

We recommend Whole Exome Sequencing (WES) for complex and undiagnosed cases with suspected genetic causes.

WES is conventionally recommended when patients present with complex and heterogeneous phenotypes that suggest multiple conditions or are unclear or atypical. It may also be recommended when a previous genetic test has not been successful. 

The most recent clinical evidence also supports WES testing as a first-line test when a patient's symptoms or family history suggest a genetic cause of diseases. This is especially true in the case of neurodevelopmental disorders, such as intellectual disability, global development delay, and autism spectrum disorder, due to the high diagnostic yield.

The ACMG (American College of Medical Genetics and Genomics) recommends the use of exome/genome sequencing as a first-level test for children with intellectual disabilities, developmental delays, or multiple congenital anomalies.

WES test results can also lead to faster diagnoses, better prevention of symptomatic disease, more targeted treatments, or even an end to the need for some expensive or invasive procedures.

We especially recommend CentoXome for patients when:

• Symptoms are broad, complex, or nonspecific, not pointing toward a specific disease or typical phenotype. For example, patients with developmental delay, intellectual disability, autism spectrum disorder, epilepsy
• Chromosomal imbalances, microdeletion or microduplication syndromes are suspected. For example, children with global developmental delay and/or multiple congenital anomalies, DiGeorge syndrome
• Clinical suspicion of mitochondrial disease. For example, patients with muscle weakness, cardiomyopathy, visual problems
• A severe presentation in the neonatal or infant period. For example, critically ill neonates and children in neonatal and pediatric intensive care units (NICU and PICU, respectively)
• Previous genetic testing did not provide a conclusive diagnosis. For example, patient with neurodevelopmental delay, with similarly affected siblings, and negative microarray tests
• Need for an inexpensive alternative to whole genome sequencing (WGS)

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.