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GTR Home > Tests > CentoXome (Whole Exome Sequencing)

CentoXome (Whole Exome Sequencing)

  • GTR Test IDHelp: GTR000602576.1
  • Last updated: 2022-11-07
  • Test version history

Clinical testHelp for Hereditary disease
Offered by Centogene US, LLC - The Rare Disease Company

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders. [from NCI]

Conditions tested

Target population

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"For many patients, the differential diagnosis is too broad to allow for testing a specific disorder or group of disorders with high certainty. Therefore, sequencing the complete coding region, i.e. the whole exome, is recommended. We particularly recommend whole exome sequencing for patients with: epilepsy; neurodevelopmental disorders; bone diseases; metabolic disorders; cardiomyopathy; short stature; complex dysmorphia; SCID; immunological disorders; dementia; autism; blindness."

Citations

Not provided

Clinical validity

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This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.

Citations

Not provided

Clinical utility

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Not provided

Reviews

Clinical resources

Practice guidelines

  • AAP, 2013
    Ethical and Policy Issues in Genetic Testing and Screening of Children, Pediatrics (2013) 131 (3): 620–622.

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.