GTR Home > Tests > Meckel syndrome type 4

Overview

Test order codeHelp: 642

Test name

Help

Meckel syndrome type 4

Purpose of the test

Help

This is a clinical test intended for Help: Diagnosis

Condition

Help

1 condition tested. Click Indication tab for more information.

Methodology

Help
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

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

Genes

Clinical validity

Help

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

Help

Establish or confirm diagnosis

Citations
  • The clinical utility of the test refers to the likelihood that the test will, by prompting an intervention, result in an improved health outcome. The clinical utility of a genetic test is based on the health benefits related to the interventions offered to people with positive test results. Theoretically, there are several strategies that might improve the health outcome of people with a genetic susceptibility to disease and the main one is performing of gene test. Upon obtaining the gene test results, it is possible to apply specific treatment, to perform screening for the mutations within family or population of affected patients, and in general, to improve patient’s quality of life.

How to order

Help

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

Test services

Help
  • 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.

Support Center