GTR Home > Tests > Cardiofaciocutaneous syndrome

Overview

Test order codeHelp: 161

Test name

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Cardiofaciocutaneous syndrome

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
PCR with allele specific hybridization
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

1 gene and variant. Click Methodology tab for more information.

Genes

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

Clinical utility

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Establish or confirm diagnosis

Citations
  • The quality of life of individuals with inherited disorders can be improved by knowledge of genetic predisposition, and gene test for this disease can encourage lifestyle choices that improve long-term health outcomes. The consequences of genetic tests often include social and psychological effects for the patient and his or her family that also need support and attention. This reaffirms the importance of geneticists and genetic counselors as well as primary care practitioners, and their role in informing patients and conveying test results clearly. Centogene has the growing team of genetic experts, genetic counselors and clinical experts, highly trained professionals who offer health solutions tailored to customer needs and provided through our individual expertise. The results of this gene test are clearly giving the information that can be used to develop a clinical intervention. In addition, this gene test provides clinically useful information that can inform patients and help the

How to order

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

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

  • ESC, 2014
    2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

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.

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