GTR Home > Tests > Gene dosage and expression analysis

Overview

Test name

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Gene dosage and expression analysis (Dosage analysis)

Purpose of the test

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Contribute to generalizable knowledge

Condition

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7 conditions tested. Click Condition tab for more information.

Methodology

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Molecular Genetics
RRNA analysis
RT-qPCR

Summary of what is tested

4 genes and variants, 3 chromosomal regions. Click Methodology tab for more information.

Genes

Chromosomal regions/Mitochondria

  • 2q23.1
  • 2q37.3
  • 17p11.2

Description of study

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To more fully describe and to understand the genes and pathways affected in neurodevelopmental disorders associated with a genomic abnormality (deletion or duplications).

Researchers

Person responsible for the studyHelpSarah Elsea, PhD, ABMG, FACMG, DABMG, Lab Director
Study contactHelpSarah Elsea, PhD, ABMG, FACMG, DABMG, Lab Director, elsea@bcm.edu, 713-798-5484 (phone)

Practice guidelines

  • ACMG, 2013
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

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