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GTR Home > Tests > CHARGE syndrome

Overview

Test order codeHelp: 1221

Test name

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CHARGE syndrome

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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Click Indication tab for more information.

How to order

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Order URL Help: https://www.centogene.com/ordering/how-to-order-a-test.html

Specimen source

Amniocytes
Amniotic fluid
Bone marrow
Buccal swab
Dried blood spot (DBS) card
Fetal blood
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Paraffin block
Peripheral (whole) blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Citations
  • The benefits associated with the use of this genetic test in practice are numerous, including improvement in measurable clinical outcomes and usefulness, added values in clinical management of the patient. This gene test could lead to the improved health outcome in affected patients. The test can provide information about diagnosis, and support the treatment, management, or prevention of a disease. This gene test also supports following issues: the effectiveness of available interventions for individuals at increased risk, social consequences of genetic information, economic implications of genetic testing and follow-up of the patients.

Clinical validity

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Number of mutations were up to now reported as causing mutation for this disease, and vast majority of them were reported as missense type, identified with more than 99,9% specificity using standard sequencing at Centogene. Deletion/duplication analysis is also designed at Centogene specifically for this gene and offered in order to specially meets the patient`s needs. Gene test for this gene could support precise diagnosis of the disease in majority of affected patients with family history, as well as number of sporadic patients with particular symptomatology. The ability of this particular gene test to accurately and reliably identify or predict the intermediate or final outcomes of the disease is fairly high.

Citations

Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Practice guidelines

  • ACMG, 2013
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
  • EuroGentest, 2011
    Clinical utility gene card for: CHARGE syndrome.

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.