GTR Home > Tests > Bloom Syndrome

Overview

Test name

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Bloom Syndrome

Purpose of the test

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

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
TTargeted variant analysis
PCR/primer oligonucleotide base extension (PROBE)/mass spectrometry

Summary of what is tested

1 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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Order URL Help: http://www.chginc.org/

Test services

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  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Practice guidelines

  • ACOG, 2009
    ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
  • ACMG, 2008
    Carrier screening in individuals of Ashkenazi Jewish descent.

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