GTR Home > Tests > Wolman disease

Overview

Test order codeHelp: 489

Test name

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Wolman disease

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
SMutation scanning of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what tested

1 genes and variants. Click Methodology tab for more information.

Genes and variants

Clinical validity

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This gene test is designed to predict a given clinical outcome with the highest probability. Since gene tests often yield results that indicate the "chance" or probability that a disease will manifest itself in the individual, rather than providing a highly definite diagnosis, it is important that the test results are expressive. Centogene is offering superior clarification of the gene test results and the implications of a positive or negative result to patients. Positive test indicates almost certain development of the disease in later life and thus it is of great importance to obtain the results, with proper medical expertise, and design future patient management, in order to improve the life quality.

Citations

Not provided

Clinical utility

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Establish or confirm diagnosis

Citations
  • 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 them making choices that could improve health outcomes. 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

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

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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