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GTR Home > Tests > Achondroplasia (FGFR3 gene)

Overview

Test order codeHelp: 1698

Test name

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Achondroplasia (FGFR3 gene) (ACH)

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

Amniocytes
Amniotic fluid
Buccal swab
Buffy coat
Isolated DNA
Peripheral (whole) blood
Saliva

Methodology

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Molecular Genetics
TTargeted variant analysis
Uni-directional Sanger sequencing

Summary of what is tested

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Clinical utility

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Guidance for management

Citations
  • [Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia]. - PubMed ID: 15022403

Clinical validity

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Over 98% of patients with achondroplasia present the pathogenic variant G380R . The less frequent variant G375C also is associated with achondroplasia.

Citations
  • The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. - PubMed ID: 10696568

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

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