GTR Home > Tests > UV-sensitive syndrome 3


Test order codeHelp: 1036

Test name


UV-sensitive syndrome 3

Purpose of the test


This is a clinical test intended for Help: Diagnosis



1condition tested. Click Indication tab for more information.


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


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.


Not provided

Clinical utility


Establish or confirm diagnosis

  • 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


Order URL Help:

Test services

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

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