GTR Home > Tests > COL1A1/2-Related Osteogenesis Imperfecta

Overview

Test order codeHelp: COL1A1/2-Related Osteogenesis Imperfecta

Test name

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COL1A1/2-Related Osteogenesis Imperfecta

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

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

Genes

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Fill out a requisition with as much information as you have. Draw 1 or 2 (5ml or 3ml) EDTA (purple top) tubes and send via FedEx priority overnight courier.
Order URL Help: http://tulane.edu/som/regenmed/services/dnadiagnostics.cfm

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: COL1A1/2 Related Osteogenesis Imperfecta
  • Confirmation of research findings, Order code: COL1A1/2 Related Osteogenesis Imperfecta
  • Custom Prenatal Testing, Order code: COL1A1/2 Related Osteogenesis Imperfecta

Clinical resources

Practice guidelines

  • EMQN, 2012
    EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
  • Orphanet, 2008
    Orphanet Emergency Guidelines: Osteogenesis imperfecta (OI)
  • ACMG, 2008
    Statement on guidance for genetic counseling in advanced paternal age
  • ACMG, 2006
    Genetic evaluation of suspected osteogenesis imperfecta (OI)

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