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GTR Home > Tests > SHOX gene, deletions and duplications

Overview

Test order codeHelp: 2386

Test name

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SHOX gene, deletions and duplications (SHOX CNV)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

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How to order

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Not provided

Specimen source

Peripheral (whole) blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations

Clinical validity

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Alterarions of SHOX gene are present in 2% to 15% of patients with short stature, in 50% to 90% of patients with Leri-Weill dyschondrostosis, and in almost 100% of patients with Turner Syndrome. About 80% of alterations correspond to deletions.

Citations

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Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

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