GTR Home > Tests > Lowe oculocerebrorenal syndrome

Overview

Test order codeHelp: 203

Test name

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Lowe oculocerebrorenal 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 genes and variants. 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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Not provided

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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  • Custom Sequence Analysis
  • Custom Deletion/Duplication Testing
  • Clinical Testing/Confirmation of Mutations Identified Previously
  • 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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