GTR Home > Tests > UV-sensitive syndrome 3

Overview

Test order codeHelp: 1036

Test name

Help

UV-sensitive syndrome 3

Purpose of the test

Help

This is a clinical test intended for Help: Diagnosis

Condition

Help

1condition tested. Click Indication tab for more information.

Methodology

Help
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 tested

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

Genes and variants

Clinical validity

Help

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. Number of mutation were up to now reported as causing mutation for this disease, and more than dozen of them were reported as missense/nonsense type, that can be identified with more than 99,9% specificity using standard sequencing at Centogene. We are also offering deletion/duplication analysis for this gene, designed at Centogene 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.

Citations

Not provided

Clinical utility

Help

Establish or confirm diagnosis

Citations
  • The offered gene test has a great potential to improve health outcome in the patient. 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.

Write to the Help Desk